Gene Variant Detail

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Gene ATM
Variant V630M
Impact List missense
Protein Effect unknown
Gene Variant Descriptions ATM V630M does not lie within any known functional domains of the Atm protein (UniProt.org). V630M has been identified in sequencing studies (PMID: 27468087), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2024).
Associated Drug Resistance
Category Variants Paths

ATM mutant ATM V630M

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Transcript NM_000051.4
gDNA chr11:g.108252902G>A
cDNA c.1888G>A
Protein p.V630M
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017017790.3 chr11:g.108252902G>A c.1888G>A p.V630M RefSeq GRCh38/hg38
XM_047426976.1 chr11:g.108252902G>A c.1888G>A p.V630M RefSeq GRCh38/hg38
XM_005271562.6 chr11:g.108252902G>A c.1888G>A p.V630M RefSeq GRCh38/hg38
XM_011542840.3 chr11:g.108252902G>A c.1888G>A p.V630M RefSeq GRCh38/hg38
XM_017017791.1 chr11:g.108252902G>A c.1888G>A p.V630M RefSeq GRCh38/hg38
XM_011542840.4 chr11:g.108252902G>A c.1888G>A p.V630M RefSeq GRCh38/hg38
NM_000051 chr11:g.108252902G>A c.1888G>A p.V630M RefSeq GRCh38/hg38
XM_017017790.2 chr11:g.108252902G>A c.1888G>A p.V630M RefSeq GRCh38/hg38
NM_000051.3 chr11:g.108252902G>A c.1888G>A p.V630M RefSeq GRCh38/hg38
XM_017017790 chr11:g.108252902G>A c.1888G>A p.V630M RefSeq GRCh38/hg38
XM_011542843.3 chr11:g.108252902G>A c.1888G>A p.V630M RefSeq GRCh38/hg38
XM_017017792 chr11:g.108252902G>A c.1888G>A p.V630M RefSeq GRCh38/hg38
XM_047426975.1 chr11:g.108252902G>A c.1888G>A p.V630M RefSeq GRCh38/hg38
XM_017017789.2 chr11:g.108252902G>A c.1888G>A p.V630M RefSeq GRCh38/hg38
XM_011542843.2 chr11:g.108252902G>A c.1888G>A p.V630M RefSeq GRCh38/hg38
XM_017017792.2 chr11:g.108252902G>A c.1888G>A p.V630M RefSeq GRCh38/hg38
XM_011542840 chr11:g.108252902G>A c.1888G>A p.V630M RefSeq GRCh38/hg38
XM_005271561 chr11:g.108252902G>A c.1888G>A p.V630M RefSeq GRCh38/hg38
XM_005271562 chr11:g.108252902G>A c.1888G>A p.V630M RefSeq GRCh38/hg38
XM_006718843.4 chr11:g.108252902G>A c.1888G>A p.V630M RefSeq GRCh38/hg38
XM_006718843.5 chr11:g.108252902G>A c.1888G>A p.V630M RefSeq GRCh38/hg38
XM_017017791 chr11:g.108252902G>A c.1888G>A p.V630M RefSeq GRCh38/hg38
NM_001351834.1 chr11:g.108252902G>A c.1888G>A p.V630M RefSeq GRCh38/hg38
XM_005271562.5 chr11:g.108252902G>A c.1888G>A p.V630M RefSeq GRCh38/hg38
XM_017017789 chr11:g.108252902G>A c.1888G>A p.V630M RefSeq GRCh38/hg38
XM_011542843 chr11:g.108252902G>A c.1888G>A p.V630M RefSeq GRCh38/hg38
XM_047426981.1 chr11:g.108252902G>A c.1888G>A p.V630M RefSeq GRCh38/hg38
NM_001351834.2 chr11:g.108252902G>A c.1888G>A p.V630M RefSeq GRCh38/hg38
NM_000051.4 chr11:g.108252902G>A c.1888G>A p.V630M RefSeq GRCh38/hg38
XM_006718843 chr11:g.108252902G>A c.1888G>A p.V630M RefSeq GRCh38/hg38

Filtering

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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