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.P1713_D1714delFs

c.5139_5140delCA

Surrounding Variants

1 paper

NM_000489.6

p.D1714fs

c.5140_5141fs

1 paper

NM_000489.6

p.D1714Y

c.5140G>T

1 paper

NM_000489.6

p.F1715_V1716insT

c.5143_5147ins3

1 paper

NM_000489.6

p.P1713H

c.5138C>A

4 papers

NM_000489.6

p.P1713S

c.5137C>T

1 paper

NM_000489.6

p.G1712V

c.5135G>T

4 papers

NM_000489.6

p.G1712D

c.5135G>A

1 paper

NM_000489.6

p.G1712fs

c.5134_5135fs

1 paper

NM_000489.6

p.G1712R

c.5134G>C

1 paper

NM_000489.6

p.G1712Splc

c.5135-2A>G

1 paper

NM_000489.6

p.V1717G

c.5150T>G

2 papers

NM_000489.6

p.C1718fs

c.5152_5153fs