Varaico: Literature-Extracted Genetic Variants

ATRX

1,756 papers

RefSeq Summary

The protein encoded by this gene contains an ATPase/helicase domain, and thus it belongs to the SWI/SNF family of chromatin remodeling proteins. This protein is found to undergo cell cycle-dependent p...

Pfam Domains

ADD_ATRXaa 158–213UCSCCysteine Rich ADD domain

SNF2-rel_domaa 1563–1888UCSCSNF2-related domain

Helicase_Caa 2018–2155UCSCHelicase conserved C-terminal domain

ATRX_Caa 2316–2416UCSCATRX C-terminal domain

Gene Aliases

HGNC Name

ATRX chromatin remodeler

HGNC Previous Symbols

RAD54; JMS; MRX52

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000489.6

p.K715fs

c.2143_2144fs

Surrounding Variants

1 paper

NM_000489.6

p.K715*

c.2143A>T

1 paper

NM_000489.6

p.P717S

c.2149C>T

2 papers

NM_000489.6

p.P717fs

c.2149_2150fs

1 paper

NM_000489.6

p.S719C

c.2156C>G

1 paper

NM_000489.6

p.K720*

c.2158A>T

1 paper

NM_000489.6

p.D709Y

c.2125G>T

1 paper

NM_000489.6

p.I708fs

c.2122_2123fs

1 paper

NM_000489.6

p.S722*

c.2165C>G

1 paper

NM_000489.6

p.S722fs

c.2164_2165fs

2 papers

NM_000489.6

p.E723*

c.2167G>T

1 paper

NM_000489.6

p.A707T

c.2119G>A

1 paper

NM_000489.6

p.S722delFs

c.2166delT