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.N424_K433delFs

c.1272_1299del28

Surrounding Variants

1 paper

NM_000489.6

p.V434F

c.1300G>T

1 paper

NM_000489.6

p.K433delFs

c.1298delT

1 paper

NM_000489.6

p.V434A

c.1301T>C

1 paper

NM_000489.6

p.K433*

c.1297A>T

3 papers

NM_000489.6

p.I435V

c.1303A>G

1 paper

NM_000489.6

p.K433E

c.1297A>G

1 paper

NM_000489.6

p.H432insFs

c.1296dupT

1 paper

NM_000489.6

p.E431_H432del2

c.1291_1295del6

2 papers

NM_000489.6

p.I435T

c.1304T>C

1 paper

NM_000489.6

p.I435delFs

c.1303delT

2 papers

NM_000489.6

p.E431_H432delFs

c.1291_1294del4

1 paper

NM_000489.6

p.D436Y

c.1306G>T