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Gene | ATRX |
Variant | K1650N |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | ATRX K1650N lies within the helicase ATP-binding domain of the Atrx protein (UniProt.org). K1650N results in reduced ATPase activity of Atrx and impaired DNA translocation in cell culture (PMID: 21505078). |
Associated Drug Resistance | |
Category Variants Paths |
ATRX mutant ATRX inact mut ATRX K1650N |
Transcript | NM_000489.6 |
gDNA | chrX:g.77633572C>G |
cDNA | c.4950G>C |
Protein | p.K1650N |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000489.4 | chrX:g.77633572C>G | c.4950G>C | p.K1650N | RefSeq | GRCh38/hg38 |
NM_000489.6 | chrX:g.77633572C>G | c.4950G>C | p.K1650N | RefSeq | GRCh38/hg38 |
NM_000489 | chrX:g.77633572C>G | c.4950G>C | p.K1650N | RefSeq | GRCh38/hg38 |
XM_006724668.3 | chrX:g.77633572C>G | c.4950G>C | p.K1650N | RefSeq | GRCh38/hg38 |
XM_006724668 | chrX:g.77633572C>G | c.4950G>C | p.K1650N | RefSeq | GRCh38/hg38 |
XM_017029603.1 | chrX:g.77633223T>G | c.4950A>C | p.K1650N | RefSeq | GRCh38/hg38 |
XM_047442191.1 | chrX:g.77633572C>G | c.4950G>C | p.K1650N | RefSeq | GRCh38/hg38 |
XM_017029603 | chrX:g.77633223T>G | c.4950A>C | p.K1650N | RefSeq | GRCh38/hg38 |
XM_006724668.4 | chrX:g.77633572C>G | c.4950G>C | p.K1650N | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
ATRX K1650N | loss of function |