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

27 papers

NM_000489.6

p.R781*

c.2341C>T

Surrounding Variants

1 paper

NM_000489.6

p.R781fs

c.2341_2342fs

1 paper

NM_000489.6

p.R781insFs

c.2342_2343insA

6 papers

NM_000489.6

p.R781Q

c.2342G>A

1 paper

NM_000489.6

p.R781R

c.2343A>T

1 paper

NM_000489.6

p.R781fs

c.2341_2342fs

1 paper

NM_000489.6

p.K782*

c.2344A>T

1 paper

NM_000489.6

p.K780*

c.2338A>T

1 paper

NM_000489.6

p.K780fs

c.2338_2339fs

2 papers

NM_000489.6

p.R779fs

c.2335_2336fs

1 paper

NM_000489.6

p.K778_R779delFs

c.2332_2336del5

1 paper

NM_000489.6

p.R779K

c.2336G>A

1 paper

NM_000489.6

p.R779delFs

c.2335delT