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_138270.5

p.Y332C

c.995A>G

Surrounding Variants

1 paper

NM_000489.6

p.Y370*

c.1110T>G

1 paper

NM_000489.6

p.Y370*

c.1110T>A

1 paper

NM_000489.6

p.V371F

c.1111G>T

1 paper

NM_000489.6

p.V371L

c.1111G>C

1 paper

NM_000489.6

p.K372*

c.1114A>T

2 papers

NM_000489.6

p.S368Y

c.1103C>A

1 paper

NM_000489.6

p.N367S

c.1100A>G

1 paper

NM_000489.6

p.N367fs

c.1099_1100fs

1 paper

NM_000489.6

p.M366I

c.1098G>C

1 paper

NM_000489.6

p.M366delFs

c.1096_1097delAT

1 paper

NM_000489.6

p.M366delFs

c.1096delT

1 paper

NM_000489.6

p.M366fs

c.1096_1097fs