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.P672A

c.2014C>G

Surrounding Variants

1 paper

NM_000489.6

p.P672L

c.2015C>T

1 paper

NM_000489.6

p.P672fs

c.2014_2015fs

1 paper

NM_000489.6

p.P672delFs

c.2015delG

1 paper

NM_000489.6

p.N671Y

c.2011A>T

1 paper

NM_000489.6

p.T662_E669delFs

c.1986_2007del22

1 paper

NM_000489.6

p.T670I

c.2009C>T

1 paper

NM_000489.6

p.V673insFs

c.2018dupT

1 paper

NM_000489.6

p.E669fs

c.2005_2006fs

1 paper

NM_000489.6

p.T674fs

c.2020_2021fs

1 paper

NM_000489.6

p.P672_T674delFs

c.2014_2021del8

1 paper

NM_000489.6

p.T668_T674delFs

c.2003_2021del19

1 paper

NM_000489.6

p.S675A

c.2023T>G