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.L290insFs

c.868_869insA

Surrounding Variants

1 paper

NM_000489.6

p.L290insFs

c.869_870insT

1 paper

NM_000489.6

p.L290F

c.870G>C

1 paper

NM_000489.6

p.L291fs

c.871_872fs

2 papers

NM_000489.6

p.Q289fs

c.865_866fs

4 papers

NM_000489.6

p.Q289*

c.865C>T

1 paper

NM_000489.6

p.L291F

c.873G>T

1 paper

NM_000489.6

p.E288G

c.863A>G

1 paper

NM_000489.6

p.E288A

c.863A>C

1 paper

NM_000489.6

p.E288*

c.862G>T

1 paper

NM_000489.6

p.E288_Q289insC

c.862_866ins3

5 papers

NM_000489.6

p.Q292*

c.874C>T

1 paper

NM_000489.6

p.L287L

c.861A>G