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.I708fs

c.2122_2123fs

Surrounding Variants

1 paper

NM_000489.6

p.D709Y

c.2125G>T

1 paper

NM_000489.6

p.A707T

c.2119G>A

1 paper

NM_000489.6

p.R696_D705del10

c.2086_2114del30

1 paper

NM_000489.6

p.S704_D705insAG

c.2110_2114ins6

1 paper

NM_000489.6

p.S703C

c.2108C>G

1 paper

NM_000489.6

p.S703Y

c.2108C>A

2 papers

NM_000489.6

p.N702S

c.2105A>G

2 papers

NM_000489.6

p.R701H

c.2102G>A

1 paper

NM_000489.6

p.K715*

c.2143A>T

1 paper

NM_000489.6

p.K715fs

c.2143_2144fs

1 paper

NM_000489.6

p.K700E

c.2098A>G

1 paper

NM_000489.6

p.D699fs

c.2095_2096fs