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.E733insFs

c.2197_2198insAC

Surrounding Variants

2 papers

NM_000489.6

p.E733K

c.2197G>A

1 paper

NM_000489.6

p.E733A

c.2198A>C

1 paper

NM_000489.6

p.E733fs

c.2197_2198fs

1 paper

NM_000489.6

p.M734V

c.2200A>G

1 paper

NM_000489.6

p.S731fs

c.2191_2192fs

1 paper

NM_000489.6

p.S731delFs

c.2192delG

1 paper

NM_000489.6

p.M734I

c.2202G>T

1 paper

NM_000489.6

p.M734I

c.2202G>C

1 paper

NM_000489.6

p.M734I

c.2202G>A

1 paper

NM_000489.6

p.M734delFs

c.2202delC

1 paper

NM_000489.6

p.D730H

c.2188G>C

1 paper

NM_000489.6

p.S729*

c.2186C>G