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.T489N

c.1466C>A

Surrounding Variants

1 paper

NM_000489.6

p.G490S

c.1468G>A

1 paper

NM_000489.6

p.G490A

c.1469G>C

1 paper

NM_000489.6

p.K487*

c.1459A>T

1 paper

NM_000489.6

p.G491delFs

c.1473delA

1 paper

NM_000489.6

p.E492fs

c.1474_1475fs

1 paper

NM_000489.6

p.N486fs

c.1456_1457fs

1 paper

NM_000489.6

p.E492D

c.1476A>T

1 paper

NM_000489.6

p.E492D

c.1476A>C

1 paper

NM_000489.6

p.N486H

c.1456A>C

3 papers

NM_000489.6

p.T485fs

c.1453_1454fs

2 papers

NM_000489.6

p.T485insFs

c.1453dupA

1 paper

NM_000489.6

p.H493delFs

c.1477delG