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.N1726delFs

c.5177delT

Surrounding Variants

1 paper

NM_000489.6

p.N1726fs

c.5176_5177fs

1 paper

NM_000489.6

p.N1726_E1727insFs

c.5178_5179insA

1 paper

NM_000489.6

p.E1720_K1725del6

c.5158_5174del18

1 paper

NM_000489.6

p.E1727fs

c.5179_5180fs

1 paper

NM_000489.6

p.K1725fs

c.5173_5174fs

1 paper

NM_000489.6

p.A1728S

c.5182G>T

1 paper

NM_000489.6

p.E1727insFs

c.5180dupA

1 paper

NM_000489.6

p.A1728P

c.5182G>C

1 paper

NM_000489.6

p.K1725R

c.5174A>G

1 paper

NM_000489.6

p.K1725*

c.5173A>T

1 paper

NM_000489.6

p.K1725fs

c.5173_5174fs

1 paper

NM_000489.6

p.S1729F

c.5186C>T