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.S1588*

c.4763C>G

Surrounding Variants

1 paper

NM_000489.6

p.S1588*

c.4763C>A

1 paper

NM_000489.6

p.S1588P

c.4762T>C

1 paper

NM_000489.6

p.S1588S

c.4764A>G

3 papers

NM_000489.6

p.G1589V

c.4766G>T

1 paper

NM_000489.6

p.G1587A

c.4760G>C

1 paper

NM_000489.6

p.P1586delFs

c.4757delG

1 paper

NM_000489.6

p.C1590Y

c.4769G>A

1 paper

NM_138270.5

p.P1548L

c.4643C>T

1 paper

NM_000489.6

p.W1572_P1586delFs

c.4714_4756del43

1 paper

NM_000489.6

p.P1586fs

c.4756_4757fs

2 papers

NM_000489.6

p.K1583_K1584delFs

c.4749_4752del4

2 papers

NM_000489.6

p.K1584fs

c.4750_4751fs