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.A173delFs

c.519delA

Surrounding Variants

1 paper

NM_000489.6

p.C174Y

c.521G>A

2 papers

NM_000489.6

p.G175*

c.523G>T

2 papers

NM_000489.6

p.G175V

c.524G>T

9 papers

NM_000489.6

p.G175E

c.524G>A

2 papers

NM_000489.6

p.A173V

c.518C>T

1 paper

NM_000489.6

p.T172_A173delFs

c.514_517del4

2 papers

NM_000489.6

p.A173T

c.517G>A

1 paper

NM_000489.6

p.G175delFs

c.523delC

3 papers

NM_000489.6

p.Q176*

c.526C>T

1 paper

NM_000489.6

p.Q176_Q177insQ

c.526_530ins3

1 paper

NM_000489.6

p.Q176fs

c.526_527fs

3 papers

NM_000489.6

p.T172I

c.515C>T