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

2 papers

NM_000489.6

p.S596_N597ins4

c.1786_1790ins12

Surrounding Variants

3 papers

NM_000489.6

p.S596P

c.1786T>C

1 paper

NM_000489.6

p.S596C

c.1787C>G

1 paper

NM_000489.6

p.S596Y

c.1787C>A

1 paper

NM_000489.6

p.L595F

c.1783C>T

1 paper

NM_000489.6

p.N597S

c.1790A>G

2 papers

NM_000489.6

p.S594C

c.1781C>G

2 papers

NM_000489.6

p.S598P

c.1792T>C

1 paper

NM_000489.6

p.V582_S598ins5

c.1746_1793dup48

1 paper

NM_000489.6

p.I600fs

c.1798_1799fs

2 papers

NM_000489.6

p.I600V

c.1798A>G

1 paper

NM_000489.6

p.I600N

c.1799T>A

1 paper

NM_000489.6

p.T591delFs

c.1771_1772delGT