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.S338fs

c.1012_1013fs

Surrounding Variants

2 papers

NM_000489.6

p.V339L

c.1015G>C

1 paper

NM_000489.6

p.S338F

c.1013C>T

1 paper

NM_000489.6

p.S338C

c.1013C>G

1 paper

NM_000489.6

p.S338insFs

c.1012_1013insT

1 paper

NM_000489.6

p.T340A

c.1018A>G

1 paper

NM_000489.6

p.G337C

c.1009G>T

1 paper

NM_000489.6

p.V339_T340delFs

c.1017_1018delTT

1 paper

NM_000489.6

p.S336F

c.1007C>T

1 paper

NM_000489.6

p.S336A

c.1006T>G

1 paper

NM_000489.6

p.Y341insFs

c.1022_1023insT

1 paper

NM_000489.6

p.Y341*

c.1023C>G

1 paper

NM_000489.6

p.Y341*

c.1023C>A