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

2 papers

NM_000489.6

p.W222*

c.666G>A

Surrounding Variants

1 paper

NM_000489.6

p.W222insFs

c.666dupG

1 paper

NM_000489.6

p.C223R

c.667T>C

3 papers

NM_000489.6

p.W222S

c.665G>C

2 papers

NM_000489.6

p.W222*

c.665G>A

1 paper

NM_000489.6

p.C223F

c.668G>T

1 paper

NM_000489.6

p.C223Y

c.668G>A

2 papers

NM_000489.6

p.R221M

c.662G>T

5 papers

NM_000489.6

p.R221K

c.662G>A

1 paper

NM_000489.6

p.A224T

c.670G>A

3 papers

NM_000489.6

p.A224V

c.671C>T

1 paper

NM_000489.6

p.R221W

c.661A>T

3 papers

NM_000489.6

p.R221Splc

c.663-2A>G