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.V608V

c.1824T>A

Surrounding Variants

1 paper

NM_000489.6

p.E607_V608delFs

c.1820_1823del4

7 papers

NM_000489.6

p.P609A

c.1825C>G

1 paper

NM_000489.6

p.Q610*

c.1828C>T

1 paper

NM_000489.6

p.E607*

c.1819G>T

1 paper

NM_000489.6

p.Q610insFs

c.1829_1830insT

1 paper

NM_000489.6

p.E607fs

c.1819_1820fs

1 paper

NM_000489.6

p.D611_K612insG

c.1831_1835ins3

1 paper

NM_000489.6

p.D604_Q606Fs

c.1812_1817delinsCFs

3 papers

NM_000489.6

p.Q606*

c.1816C>T

1 paper

NM_000489.6

p.C605fs

c.1813_1814fs

1 paper

NM_000489.6

p.C605C

c.1815T>C

1 paper

NM_000489.6

p.D604E

c.1812T>G