MLH1 E71del
Gene Variant Detail

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Gene MLH1
Variant E71del
Impact List deletion
Protein Effect loss of function - predicted
Gene Variant Descriptions MLH1 E71del results in the deletion of an amino acid within the ATPase domain of the Mlh1 protein at amino acid 71 (PMID: 22753075). E71del confers a loss of function on the Mlh1 protein as demonstrated by reduced mismatch repair activity (MMR) in an in vitro assay and decreased protein expression compared to wild-type in culture (PMID: 21120944), and therefore, is predicted to lead a loss of Mlh1 protein function.
Associated Drug Resistance
Category Variants Paths

MLH1 mutant MLH1 inact mut MLH1 E71del

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Transcript NM_000249.4
gDNA chr3:g.37000960_37000962delAGA
cDNA c.213_215delAGA
Protein p.E71delE
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011533727 chr3:g.37025886_37025888delGAG c.214_216delGAG p.E72delE RefSeq GRCh38/hg38
NM_001354627.2 chr3:g.37025886_37025888delGAG c.214_216delGAG p.E72delE RefSeq GRCh38/hg38
XM_047448152.1 chr3:g.37004404_37004406delTTG c.211_213delTTG p.L71delL RefSeq GRCh38/hg38
XM_017006450.2 chr3:g.37025832_37025834delGTC c.211_213delGTC p.V71delV RefSeq GRCh38/hg38
NM_001354615.2 chr3:g.37020359_37020361delCAT c.211_213delCAT p.H71delH RefSeq GRCh38/hg38
NM_001354617.1 chr3:g.37020359_37020361delCAT c.211_213delCAT p.H71delH RefSeq GRCh38/hg38
NM_001258271.2 chr3:g.37000960_37000962delAGA c.213_215delAGA p.E71delE RefSeq GRCh38/hg38
NM_001258271 chr3:g.37000960_37000962delAGA c.213_215delAGA p.E71delE RefSeq GRCh38/hg38
XM_017006451 chr3:g.37025886_37025888delGAG c.214_216delGAG p.E72delE RefSeq GRCh38/hg38
NM_001354621.2 chr3:g.37025832_37025834delGTC c.211_213delGTC p.V71delV RefSeq GRCh38/hg38
XM_005265161.3 chr3:g.37000960_37000962delAGA c.213_215delAGA p.E71delE RefSeq GRCh38/hg38
XM_005265163 chr3:g.37020359_37020361delCAT c.211_213delCAT p.H71delH RefSeq GRCh38/hg38
NM_001354626.1 chr3:g.37025886_37025888delGAG c.214_216delGAG p.E72delE RefSeq GRCh38/hg38
NM_001354628.1 chr3:g.37000960_37000962delAGA c.213_215delAGA p.E71delE RefSeq GRCh38/hg38
NM_001258273 chr3:g.37020359_37020361delCAT c.211_213delCAT p.H71delH RefSeq GRCh38/hg38
NM_001354615.1 chr3:g.37020359_37020361delCAT c.211_213delCAT p.H71delH RefSeq GRCh38/hg38
XM_005265166 chr3:g.37025832_37025834delGTC c.211_213delGTC p.V71delV RefSeq GRCh38/hg38
NM_001354629.1 chr3:g.37004404_37004406delTTG c.211_213delTTG p.L71delL RefSeq GRCh38/hg38
NM_001354627.1 chr3:g.37025886_37025888delGAG c.214_216delGAG p.E72delE RefSeq GRCh38/hg38
NM_001258273.2 chr3:g.37020359_37020361delCAT c.211_213delCAT p.H71delH RefSeq GRCh38/hg38
NM_001354618.1 chr3:g.37020359_37020361delCAT c.211_213delCAT p.H71delH RefSeq GRCh38/hg38
NM_001354620.1 chr3:g.37008865_37008867delCCA c.211_213delCCA p.P71delP RefSeq GRCh38/hg38
NM_001354630.1 chr3:g.37000960_37000962delAGA c.213_215delAGA p.E71delE RefSeq GRCh38/hg38
NM_001354623.2 chr3:g.37025832_37025834delGTC c.211_213delGTC p.V71delV RefSeq GRCh38/hg38
NM_001258273.1 chr3:g.37020359_37020361delCAT c.211_213delCAT p.H71delH RefSeq GRCh38/hg38
NM_001167617 chr3:g.37008865_37008867delCCA c.211_213delCCA p.P71delP RefSeq GRCh38/hg38
NM_001167618.3 chr3:g.37020359_37020361delCAT c.211_213delCAT p.H71delH RefSeq GRCh38/hg38
NM_001354625.1 chr3:g.37025886_37025888delGAG c.214_216delGAG p.E72delE RefSeq GRCh38/hg38
NM_001167617.3 chr3:g.37008865_37008867delCCA c.211_213delCCA p.P71delP RefSeq GRCh38/hg38
XM_005265161.2 chr3:g.37000960_37000962delAGA c.213_215delAGA p.E71delE RefSeq GRCh38/hg38
NM_001354629.2 chr3:g.37004404_37004406delTTG c.211_213delTTG p.L71delL RefSeq GRCh38/hg38
NM_000249 chr3:g.37000960_37000962delAGA c.213_215delAGA p.E71delE RefSeq GRCh38/hg38
NM_000249.3 chr3:g.37000960_37000962delAGA c.213_215delAGA p.E71delE RefSeq GRCh38/hg38
NM_001354616.1 chr3:g.37020359_37020361delCAT c.211_213delCAT p.H71delH RefSeq GRCh38/hg38
XM_047448154.1 chr3:g.37020359_37020361delCAT c.211_213delCAT p.H71delH RefSeq GRCh38/hg38
NM_001354619.1 chr3:g.37020359_37020361delCAT c.211_213delCAT p.H71delH RefSeq GRCh38/hg38
XM_047448155.1 chr3:g.37020359_37020361delCAT c.211_213delCAT p.H71delH RefSeq GRCh38/hg38
XM_005265164 chr3:g.37020359_37020361delCAT c.211_213delCAT p.H71delH RefSeq GRCh38/hg38
NM_001167618 chr3:g.37020359_37020361delCAT c.211_213delCAT p.H71delH RefSeq GRCh38/hg38
XM_005265161 chr3:g.37000960_37000962delAGA c.213_215delAGA p.E71delE RefSeq GRCh38/hg38
NM_001354622.2 chr3:g.37025832_37025834delGTC c.211_213delGTC p.V71delV RefSeq GRCh38/hg38
NM_001167619 chr3:g.37020359_37020361delCAT c.211_213delCAT p.H71delH RefSeq GRCh38/hg38
NM_001258274.3 chr3:g.37020359_37020361delCAT c.211_213delCAT p.H71delH RefSeq GRCh38/hg38
NM_001354620.2 chr3:g.37008865_37008867delCCA c.211_213delCCA p.P71delP RefSeq GRCh38/hg38
NM_001354619.2 chr3:g.37020359_37020361delCAT c.211_213delCAT p.H71delH RefSeq GRCh38/hg38
NM_001354630.2 chr3:g.37000960_37000962delAGA c.213_215delAGA p.E71delE RefSeq GRCh38/hg38
NM_001354617.2 chr3:g.37020359_37020361delCAT c.211_213delCAT p.H71delH RefSeq GRCh38/hg38
NM_001258271.1 chr3:g.37000960_37000962delAGA c.213_215delAGA p.E71delE RefSeq GRCh38/hg38
NM_001354628.2 chr3:g.37000960_37000962delAGA c.213_215delAGA p.E71delE RefSeq GRCh38/hg38
NM_001354624.1 chr3:g.37025886_37025888delGAG c.214_216delGAG p.E72delE RefSeq GRCh38/hg38
NM_001354623.1 chr3:g.37025832_37025834delGTC c.211_213delGTC p.V71delV RefSeq GRCh38/hg38
NM_001354625.2 chr3:g.37025886_37025888delGAG c.214_216delGAG p.E72delE RefSeq GRCh38/hg38
XM_017006450 chr3:g.37025832_37025834delGTC c.211_213delGTC p.V71delV RefSeq GRCh38/hg38
NM_001354626.2 chr3:g.37025886_37025888delGAG c.214_216delGAG p.E72delE RefSeq GRCh38/hg38
NM_000249.4 chr3:g.37000960_37000962delAGA c.213_215delAGA p.E71delE RefSeq GRCh38/hg38
NM_001258274.2 chr3:g.37020359_37020361delCAT c.211_213delCAT p.H71delH RefSeq GRCh38/hg38
NM_001167619.2 chr3:g.37020359_37020361delCAT c.211_213delCAT p.H71delH RefSeq GRCh38/hg38
NM_001354616.2 chr3:g.37020359_37020361delCAT c.211_213delCAT p.H71delH RefSeq GRCh38/hg38
NM_001354618.2 chr3:g.37020359_37020361delCAT c.211_213delCAT p.H71delH RefSeq GRCh38/hg38
NM_001354621.1 chr3:g.37025832_37025834delGTC c.211_213delGTC p.V71delV RefSeq GRCh38/hg38
NM_001167618.2 chr3:g.37020359_37020361delCAT c.211_213delCAT p.H71delH RefSeq GRCh38/hg38
NM_001167619.3 chr3:g.37020359_37020361delCAT c.211_213delCAT p.H71delH RefSeq GRCh38/hg38
NM_001258274 chr3:g.37020359_37020361delCAT c.211_213delCAT p.H71delH RefSeq GRCh38/hg38
XM_047448153.1 chr3:g.37020359_37020361delCAT c.211_213delCAT p.H71delH RefSeq GRCh38/hg38
XM_017006449 chr3:g.37025832_37025834delGTC c.211_213delGTC p.V71delV RefSeq GRCh38/hg38
NM_001354622.1 chr3:g.37025832_37025834delGTC c.211_213delGTC p.V71delV RefSeq GRCh38/hg38
NM_001167617.2 chr3:g.37008865_37008867delCCA c.211_213delCCA p.P71delP RefSeq GRCh38/hg38
NM_001354624.2 chr3:g.37025886_37025888delGAG c.214_216delGAG p.E72delE RefSeq GRCh38/hg38

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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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Molecular Profile Protein Effect Treatment Approaches
MLH1 E71del loss of function - predicted