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.K584N

c.1752A>T

Surrounding Variants

2 papers

NM_000489.6

p.K584N

c.1752A>C

2 papers

NM_000489.6

p.E585*

c.1753G>T

2 papers

NM_000489.6

p.E585K

c.1753G>A

1 paper

NM_000489.6

p.K581_T583del0

c.1743_1748del6

2 papers

NM_000489.6

p.T583fs

c.1747_1748fs

1 paper

NM_000489.6

p.V582fs

c.1744_1745fs

1 paper

NM_000489.6

p.V582I

c.1744G>A

1 paper

NM_000489.6

p.K581delFs

c.1742delT

1 paper

NM_000489.6

p.Y587*

c.1761T>G

1 paper

NM_000489.6

p.Y587*

c.1761T>A

1 paper

NM_000489.6

p.V588I

c.1762G>A

1 paper

NM_000489.6

p.V588G

c.1763T>G