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.D613Y

c.1837G>T

Surrounding Variants

1 paper

NM_000489.6

p.D613N

c.1837G>A

1 paper

NM_000489.6

p.G614fs

c.1840_1841fs

1 paper

NM_000489.6

p.G614delFs

c.1842delG

1 paper

NM_000489.6

p.D611_K612insG

c.1831_1835ins3

1 paper

NM_000489.6

p.Y615delFs

c.1843delA

1 paper

NM_000489.6

p.Q610insFs

c.1829_1830insT

1 paper

NM_000489.6

p.Q610*

c.1828C>T

7 papers

NM_000489.6

p.P609A

c.1825C>G

1 paper

NM_000489.6

p.V608V

c.1824T>A

1 paper

NM_000489.6

p.E607_V608delFs

c.1820_1823del4

1 paper

NM_000489.6

p.S617delFs

c.1849delT

1 paper

NM_000489.6

p.K616_S617delFs

c.1848_1849delTT