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Gene | ATM |
Variant | K2811fs |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | ATM K2811fs results in a change in the amino acid sequence of the Atm protein beginning at aa 2811 of 3056, likely resulting in premature truncation of the functional protein (UniProt.org). K2811fs has not been characterized, however, due to the effects of other truncation mutations downstream of K2811 (PMID: 16603769), is predicted to lead to a loss of Atm protein function. |
Associated Drug Resistance | |
Category Variants Paths |
ATM mutant ATM inact mut ATM K2811fs |
Transcript | NM_000051.4 |
gDNA | chr11:g.(108345754_108345755) |
cDNA | c.(8431_8430) |
Protein | p.K2811fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000051 | chr11:g.(108345754_108345755) | c.(8431_8430) | p.K2811fs | RefSeq | GRCh38/hg38 |
XM_017017789.2 | chr11:g.(108345754_108345755) | c.(8431_8430) | p.K2811fs | RefSeq | GRCh38/hg38 |
XM_005271561 | chr11:g.(108345754_108345755) | c.(8431_8430) | p.K2811fs | RefSeq | GRCh38/hg38 |
NM_001351834.1 | chr11:g.(108345754_108345755) | c.(8431_8430) | p.K2811fs | RefSeq | GRCh38/hg38 |
XM_005271562.5 | chr11:g.(108345754_108345755) | c.(8431_8430) | p.K2811fs | RefSeq | GRCh38/hg38 |
XM_047426976.1 | chr11:g.(108345754_108345755) | c.(8431_8430) | p.K2811fs | RefSeq | GRCh38/hg38 |
XM_006718843 | chr11:g.(108345754_108345755) | c.(8431_8430) | p.K2811fs | RefSeq | GRCh38/hg38 |
XM_017017790.2 | chr11:g.(108345754_108345755) | c.(8431_8430) | p.K2811fs | RefSeq | GRCh38/hg38 |
XM_011542843.2 | chr11:g.(108345754_108345755) | c.(8431_8430) | p.K2811fs | RefSeq | GRCh38/hg38 |
XM_047426975.1 | chr11:g.(108345754_108345755) | c.(8431_8430) | p.K2811fs | RefSeq | GRCh38/hg38 |
XM_006718843.4 | chr11:g.(108345754_108345755) | c.(8431_8430) | p.K2811fs | RefSeq | GRCh38/hg38 |
XM_017017790 | chr11:g.(108345754_108345755) | c.(8431_8430) | p.K2811fs | RefSeq | GRCh38/hg38 |
XM_005271562.6 | chr11:g.(108345754_108345755) | c.(8431_8430) | p.K2811fs | RefSeq | GRCh38/hg38 |
XM_006718843.5 | chr11:g.(108345754_108345755) | c.(8431_8430) | p.K2811fs | RefSeq | GRCh38/hg38 |
XM_017017790.3 | chr11:g.(108345754_108345755) | c.(8431_8430) | p.K2811fs | RefSeq | GRCh38/hg38 |
NM_001351834.2 | chr11:g.(108345754_108345755) | c.(8431_8430) | p.K2811fs | RefSeq | GRCh38/hg38 |
XM_011542840 | chr11:g.(108345754_108345755) | c.(8431_8430) | p.K2811fs | RefSeq | GRCh38/hg38 |
NM_000051.3 | chr11:g.(108345754_108345755) | c.(8431_8430) | p.K2811fs | RefSeq | GRCh38/hg38 |
NM_000051.4 | chr11:g.(108345754_108345755) | c.(8431_8430) | p.K2811fs | RefSeq | GRCh38/hg38 |
XM_011542843.3 | chr11:g.(108345754_108345755) | c.(8431_8430) | p.K2811fs | RefSeq | GRCh38/hg38 |
XM_017017789 | chr11:g.(108345754_108345755) | c.(8431_8430) | p.K2811fs | RefSeq | GRCh38/hg38 |
XM_011542840.4 | chr11:g.(108345754_108345755) | c.(8431_8430) | p.K2811fs | RefSeq | GRCh38/hg38 |
XM_011542843 | chr11:g.(108345754_108345755) | c.(8431_8430) | p.K2811fs | RefSeq | GRCh38/hg38 |
XM_005271562 | chr11:g.(108345754_108345755) | c.(8431_8430) | p.K2811fs | RefSeq | GRCh38/hg38 |
XM_011542840.3 | chr11:g.(108345754_108345755) | c.(8431_8430) | p.K2811fs | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
ATM K2811fs | loss of function - predicted | Olaparib |