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

4 papers

NM_000489.6

p.P667L

c.2000C>T

Surrounding Variants

1 paper

NM_000489.6

p.P667fs

c.1999_2000fs

1 paper

NM_000489.6

p.P667fs

c.1999_2000fs

1 paper

NM_000489.6

p.P667S

c.1999C>T

1 paper

NM_000489.6

p.P667insFs

c.1999_2000insTT

1 paper

NM_000489.6

p.P667T

c.1999C>A

1 paper

NM_000489.6

p.R666_P667insFs

c.1998_1999insT

1 paper

NM_000489.6

p.P667delFs

c.2001delC

1 paper

NM_000489.6

p.T668fs

c.2002_2003fs

2 papers

NM_000489.6

p.R666L

c.1997G>T

3 papers

NM_000489.6

p.R666*

c.1996C>T

1 paper

NM_000489.6

p.R666G

c.1996C>G

1 paper

NM_000489.6

p.R665delFs

c.1994delC