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.T534A

c.1600A>G

Surrounding Variants

1 paper

NM_000489.6

p.E533D

c.1599G>T

2 papers

NM_000489.6

p.E533D

c.1599G>C

1 paper

NM_000489.6

p.T534I

c.1601C>T

1 paper

NM_000489.6

p.E533*

c.1597G>T

1 paper

NM_000489.6

p.A535V

c.1604C>T

1 paper

NM_000489.6

p.L532I

c.1594C>A

1 paper

NM_000489.6

p.M536fs

c.1606_1607fs

1 paper

NM_000489.6

p.E530*

c.1588G>T

1 paper

NM_000489.6

p.F529delFs

c.1587delA

1 paper

NM_000489.6

p.E530fs

c.1588_1589fs

1 paper

NM_000489.6

p.F529fs

c.1585_1586fs

1 paper

NM_000489.6

p.V538A

c.1613T>C