Gene Variant Detail

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Gene ATRX
Variant P1228S
Impact List missense
Protein Effect unknown
Gene Variant Descriptions ATRX P1228S lies within the DAXX-interacting region of the Atrx protein (UniProt.org). P1228S has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Feb 2024).
Associated Drug Resistance
Category Variants Paths

ATRX mutant ATRX P1228S

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Transcript NM_000489.6
gDNA chrX:g.77681574G>A
cDNA c.3682C>T
Protein p.P1228S
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_006724666.5 chrX:g.77676236G>A c.3682C>T p.P1228S RefSeq GRCh38/hg38
XM_017029605.1 chrX:g.77664702G>A c.3682C>T p.P1228S RefSeq GRCh38/hg38
XM_006724668 chrX:g.77681574G>A c.3682C>T p.P1228S RefSeq GRCh38/hg38
XM_005262157.5 chrX:g.77664702G>A c.3682C>T p.P1228S RefSeq GRCh38/hg38
XM_005262155.4 chrX:g.77676236G>A c.3682C>T p.P1228S RefSeq GRCh38/hg38
XM_017029609 chrX:g.77663502G>A c.3682C>T p.P1228S RefSeq GRCh38/hg38
XM_017029605 chrX:g.77664702G>A c.3682C>T p.P1228S RefSeq GRCh38/hg38
XM_006724666 chrX:g.77676236G>A c.3682C>T p.P1228S RefSeq GRCh38/hg38
XM_005262157 chrX:g.77664702G>A c.3682C>T p.P1228S RefSeq GRCh38/hg38
XM_006724668.4 chrX:g.77681574G>A c.3682C>T p.P1228S RefSeq GRCh38/hg38
XM_017029609.1 chrX:g.77663502G>A c.3682C>T p.P1228S RefSeq GRCh38/hg38
XM_006724668.3 chrX:g.77681574G>A c.3682C>T p.P1228S RefSeq GRCh38/hg38
XM_005262157.6 chrX:g.77664702G>A c.3682C>T p.P1228S RefSeq GRCh38/hg38
NM_000489.6 chrX:g.77681574G>A c.3682C>T p.P1228S RefSeq GRCh38/hg38
XM_005262155 chrX:g.77676236G>A c.3682C>T p.P1228S RefSeq GRCh38/hg38
NM_000489.4 chrX:g.77681574G>A c.3682C>T p.P1228S RefSeq GRCh38/hg38
XM_047442191.1 chrX:g.77681574G>A c.3682C>T p.P1228S RefSeq GRCh38/hg38
NM_000489 chrX:g.77681574G>A c.3682C>T p.P1228S RefSeq GRCh38/hg38
XM_006724666.4 chrX:g.77676236G>A c.3682C>T p.P1228S RefSeq GRCh38/hg38

Filtering

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

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