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.K198_N199Splc

c.594+2T>C

Surrounding Variants

1 paper

NM_000489.6

p.K198R

c.593A>G

2 papers

NM_000489.6

p.C197fs

c.589_590fs

1 paper

NM_000489.6

p.C197F

c.590G>T

1 paper

NM_000489.6

p.C197delFs

c.589delA

1 paper

NM_000489.6

p.I196L

c.586A>C

1 paper

NM_000489.6

p.L195P

c.584T>C

3 papers

NM_000489.6

p.V194A

c.581T>C

1 paper

NM_000489.6

p.V194F

c.580G>T

7 papers

NM_000489.6

p.V194I

c.580G>A

1 paper

NM_000489.6

p.Q193H

c.579A>T

1 paper

NM_000489.6

p.Q193H

c.579A>C

1 paper

NM_000489.6

p.Q193R

c.578A>G