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.S566_K568Fs

c.1698_1703delinsCFs

Surrounding Variants

1 paper

NM_000489.6

p.S567delFs

c.1700_1701delTG

1 paper

NM_000489.6

p.D569H

c.1705G>C

1 paper

NM_000489.6

p.S567S

c.1701A>G

5 papers

NM_000489.6

p.S567*

c.1700C>G

5 papers

NM_000489.6

p.S567*

c.1700C>A

1 paper

NM_000489.6

p.R571*

c.1711A>T

1 paper

NM_000489.6

p.R571I

c.1712G>T

1 paper

NM_000489.6

p.I565F

c.1693A>T

2 papers

NM_000489.6

p.I565V

c.1693A>G

2 papers

NM_000489.6

p.N564fs

c.1690_1691fs

1 paper

NM_000489.6

p.G572insFs

c.1715_1716insT

2 papers

NM_000489.6

p.G572E

c.1715G>A