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.E511fs

c.1531_1532fs

Surrounding Variants

1 paper

NM_000489.6

p.S510fs

c.1528_1529fs

1 paper

NM_000489.6

p.E511delFs

c.1531delC

1 paper

NM_000489.6

p.S510F

c.1529C>T

2 papers

NM_000489.6

p.S510C

c.1529C>G

1 paper

NM_000489.6

p.S510insFs

c.1528dupT

1 paper

NM_000489.6

p.T509T

c.1527T>G

1 paper

NM_000489.6

p.T509fs

c.1525_1526fs

2 papers

NM_000489.6

p.L513*

c.1538T>G

2 papers

NM_000489.6

p.L513*

c.1538T>A

1 paper

NM_000489.6

p.L513fs

c.1537_1538fs

1 paper

NM_000489.6

p.D514Y

c.1540G>T

1 paper

NM_000489.6

p.L513delFs

c.1538_1539delTA