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

3 papers

NM_000489.6

p.Q1788H

c.5364G>T

Surrounding Variants

4 papers

NM_000489.6

p.Q1788H

c.5364G>C

1 paper

NM_000489.6

p.C1789R

c.5365T>C

1 paper

NM_000489.6

p.C1789fs

c.5365_5366fs

1 paper

NM_000489.6

p.G1787V

c.5360G>T

1 paper

NM_000489.6

p.G1787C

c.5359G>T

1 paper

NM_000489.6

p.G1787S

c.5359G>A

2 papers

NM_000489.6

p.A1790V

c.5369C>T

1 paper

NM_000489.6

p.A1790G

c.5369C>G

1 paper

NM_000489.6

p.D1791Y

c.5371G>T

2 papers

NM_000489.6

p.D1791H

c.5371G>C

1 paper

NM_000489.6

p.D1791N

c.5371G>A

1 paper

NM_000489.6

p.S1792Y

c.5375C>A