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.M257insFs

c.769dupA

Surrounding Variants

1 paper

NM_000489.6

p.M257I

c.771G>T

1 paper

NM_000489.6

p.M257fs

c.769_770fs

1 paper

NM_000489.6

p.M257I

c.771G>C

1 paper

NM_000489.6

p.M257I

c.771G>A

2 papers

NM_000489.6

p.E259*

c.775G>T

1 paper

NM_000489.6

p.E259Q

c.775G>C

1 paper

NM_000489.6

p.T255I

c.764C>T

1 paper

NM_000489.6

p.E259E

c.777A>G

1 paper

NM_000489.6

p.E259_N260insFs

c.777_778ins8

1 paper

NM_000489.6

p.N260fs

c.778_779fs

1 paper

NM_000489.6

p.S254P

c.760T>C

1 paper

NM_000489.6

p.N247_L253del7

c.739_758del21