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

2 papers

NM_000489.6

p.S322_N323delFs

c.965_968del4

Surrounding Variants

1 paper

NM_000489.6

p.S322*

c.965C>G

1 paper

NM_000489.6

p.S322*

c.965C>A

1 paper

NM_000489.6

p.S322T

c.964T>A

2 papers

NM_000489.6

p.G326*

c.976G>T

2 papers

NM_000489.6

p.S321insFs

c.962_963ins22

1 paper

NM_000489.6

p.G326insFs

c.977_978insC

2 papers

NM_000489.6

p.G326E

c.977G>A

1 paper

NM_000489.6

p.S321C

c.961A>T

1 paper

NM_000489.6

p.T320delFs

c.959delG

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.T320I

c.959C>T