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.D726fs

c.2176_2177fs

Surrounding Variants

1 paper

NM_000489.6

p.V725delFs

c.2174_2175delCA

1 paper

NM_000489.6

p.V725fs

c.2173_2174fs

1 paper

NM_000489.6

p.D726delFs

c.2176delC

1 paper

NM_000489.6

p.D726fs

c.2176_2177fs

1 paper

NM_000489.6

p.V725L

c.2173G>T

1 paper

NM_000489.6

p.V725L

c.2173G>C

1 paper

NM_000489.6

p.V725fs

c.2173_2174fs

3 papers

NM_000489.6

p.Q727*

c.2179C>T

2 papers

NM_000489.6

p.E723_T724delFs

c.2169_2170delTC

1 paper

NM_000489.6

p.E723D

c.2169G>T

1 paper

NM_000489.6

p.E723fs

c.2167_2168fs

1 paper

NM_000489.6

p.E723_T724insFs

c.2169_2170insA