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.L764F

c.2292G>C

Surrounding Variants

1 paper

NM_000489.6

p.L764F

c.2292G>T

1 paper

NM_000489.6

p.L764fs

c.2290_2291fs

1 paper

NM_000489.6

p.Y765H

c.2293T>C

1 paper

NM_000489.6

p.Y765fs

c.2293_2294fs

3 papers

NM_000489.6

p.L764fs

c.2290_2291fs

1 paper

NM_000489.6

p.D766fs

c.2296_2297fs

1 paper

NM_000489.6

p.D766Y

c.2296G>T

1 paper

NM_000489.6

p.T763fs

c.2287_2288fs

1 paper

NM_000489.6

p.T763A

c.2287A>G

1 paper

NM_000489.6

p.D766insFs

c.2297dupA

1 paper

NM_000489.6

p.K762N

c.2286G>T

1 paper

NM_000489.6

p.K762N

c.2286G>C