Gene Variant Detail

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Gene KIT
Variant Q556_V559delinsH
Impact List indel
Protein Effect gain of function - predicted
Gene Variant Descriptions KIT Q556_V559delinsH results in a deletion of four amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 556 to 559, combined with the insertion of a histidine (H) at the same site (PMID: 16226710). Q556_V559delinsH has not been characterized, however similar Kit exon 11 deletions are activating (PMID: 9438854, PMID: 15365079), and therefore, is predicted to lead to a gain of Kit protein function.
Associated Drug Resistance
Category Variants Paths

KIT mutant KIT act mut KIT exon 11 del KIT Q556_V559delinsH

KIT mutant KIT exon11 KIT exon 11 del KIT Q556_V559delinsH

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Transcript NM_000222.3
gDNA chr4:g.54727436_54727444delGTGGAAGGT
cDNA c.1668_1676delGTGGAAGGT
Protein p.Q556_V559delinsH
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001385285.1 chr4:g.54727436_54727444delGTGGAAGGT c.1668_1676delGTGGAAGGT p.Q556_V559delinsH RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54727436_54727444delGTGGAAGGT c.1668_1676delGTGGAAGGT p.Q556_V559delinsH RefSeq GRCh38/hg38
NM_000222 chr4:g.54727436_54727444delGTGGAAGGT c.1668_1676delGTGGAAGGT p.Q556_V559delinsH RefSeq GRCh38/hg38
XM_017008178 chr4:g.54727436_54727444delGTGGAAGGT c.1668_1676delGTGGAAGGT p.Q556_V559delinsH RefSeq GRCh38/hg38
XM_017008178.1 chr4:g.54727436_54727444delGTGGAAGGT c.1668_1676delGTGGAAGGT p.Q556_V559delinsH RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54727436_54727444delGTGGAAGGT c.1668_1676delGTGGAAGGT p.Q556_V559delinsH RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References