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.G326insFs

c.977_978insC

Surrounding Variants

2 papers

NM_000489.6

p.G326E

c.977G>A

2 papers

NM_000489.6

p.G326*

c.976G>T

1 paper

NM_000489.6

p.E327*

c.979G>T

1 paper

NM_000489.6

p.E327Q

c.979G>C

1 paper

NM_000489.6

p.E327G

c.980A>G

2 papers

NM_000489.6

p.S322_N323delFs

c.965_968del4

2 papers

NM_000489.6

p.K329fs

c.985_986fs

1 paper

NM_000489.6

p.K329E

c.985A>G

1 paper

NM_000489.6

p.K329Q

c.985A>C

1 paper

NM_000489.6

p.K329N

c.987G>T

1 paper

NM_000489.6

p.K329fs

c.985_986fs

1 paper

NM_000489.6

p.K329N

c.987G>C