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

9 papers

NM_000489.6

p.S576*

c.1727C>A

Surrounding Variants

2 papers

NM_000489.6

p.S576L

c.1727C>T

9 papers

NM_000489.6

p.S576*

c.1727C>G

1 paper

NM_000489.6

p.I574_K575del0

c.1720_1725del6

1 paper

NM_000489.6

p.S576fs

c.1726_1727fs

1 paper

NM_000489.6

p.K577Q

c.1729A>C

1 paper

NM_000489.6

p.K575fs

c.1723_1724fs

1 paper

NM_000489.6

p.K577I

c.1730A>T

1 paper

NM_000489.6

p.I574delFs

c.1720_1721delAT

1 paper

NM_000489.6

p.T578A

c.1732A>G

1 paper

NM_000489.6

p.T578S

c.1733C>G

1 paper

NM_000489.6

p.I574V

c.1720A>G

2 papers

NM_000489.6

p.T579A

c.1735A>G