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.G1721D

c.5162G>A

Surrounding Variants

1 paper

NM_000489.6

p.E1720del1

c.5158_5159delTTC

1 paper

NM_000489.6

p.H1722Y

c.5164C>T

1 paper

NM_000489.6

p.E1720_G1721del2

c.5158_5162del6

2 papers

NM_000489.6

p.E1720*

c.5158G>T

1 paper

NM_000489.6

p.E1720K

c.5158G>A

1 paper

NM_000489.6

p.I1723F

c.5167A>T

1 paper

NM_000489.6

p.I1723Fs

c.5167delinsGAAGGCFs

3 papers

NM_000489.6

p.D1719G

c.5156A>G

2 papers

NM_000489.6

p.D1719H

c.5155G>C

1 paper

NM_000489.6

p.C1718fs

c.5152_5153fs

1 paper

NM_000489.6

p.C1718insFs

c.5152_5153insT

2 papers

NM_000489.6

p.C1718fs

c.5152_5153fs