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.S540C

c.1618A>T

Surrounding Variants

3 papers

NM_000489.6

p.Q539*

c.1615C>T

1 paper

NM_000489.6

p.S541*

c.1622C>G

1 paper

NM_000489.6

p.S541*

c.1622C>A

1 paper

NM_000489.6

p.V538A

c.1613T>C

2 papers

NM_000489.6

p.D543fs

c.1627_1628fs

1 paper

NM_000489.6

p.M536fs

c.1606_1607fs

1 paper

NM_000489.6

p.D543A

c.1628A>C

1 paper

NM_000489.6

p.A535V

c.1604C>T

1 paper

NM_000489.6

p.Q545*

c.1633C>T

1 paper

NM_000489.6

p.Q545E

c.1633C>G

1 paper

NM_000489.6

p.T534I

c.1601C>T

1 paper

NM_000489.6

p.T534A

c.1600A>G