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

7 papers

NM_000489.6

p.W263R

c.787T>A

Surrounding Variants

7 papers

NM_000489.6

p.W263R

c.787T>C

1 paper

NM_000489.6

p.N261_Q262delFs

c.783_786del4

8 papers

NM_000489.6

p.W263*

c.788G>A

1 paper

NM_000489.6

p.Q262fs

c.784_785fs

8 papers

NM_000489.6

p.W263*

c.789G>A

1 paper

NM_000489.6

p.N261delFs

c.783delG

1 paper

NM_000489.6

p.Y264fs

c.790_791fs

1 paper

NM_000489.6

p.Q262*

c.784C>T

1 paper

NM_000489.6

p.N261N

c.783C>T

1 paper

NM_000489.6

p.Y264*

c.792T>G

1 paper

NM_000489.6

p.Y264*

c.792T>A

1 paper

NM_000489.6

p.N261T

c.782A>C