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.I298V

c.892A>G

Surrounding Variants

2 papers

NM_000489.6

p.K297del1

c.889_890delCTT

1 paper

NM_000489.6

p.K297N

c.891G>T

1 paper

NM_000489.6

p.K297N

c.891G>C

1 paper

NM_000489.6

p.K297R

c.890A>G

1 paper

NM_000489.6

p.K297*

c.889A>T

2 papers

NM_000489.6

p.K299E

c.895A>G

1 paper

NM_000489.6

p.K297insFs

c.889_890ins4

1 paper

NM_000489.6

p.K299N

c.897A>T

1 paper

NM_000489.6

p.K299N

c.897A>C

1 paper

NM_000489.6

p.K295fs

c.883_884fs

1 paper

NM_000489.6

p.D301fs

c.901_902fs

3 papers

NM_000489.6

p.N294fs

c.880_881fs