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.E2360A

c.7079A>C

Surrounding Variants

1 paper

NM_000489.6

p.E2360G

c.7079A>G

1 paper

NM_000489.6

p.E2360*

c.7078G>T

1 paper

NM_000489.6

p.W2358*

c.7074G>A

1 paper

NM_000489.6

p.W2358S

c.7073G>C

1 paper

NM_000489.6

p.W2358*

c.7073G>A

2 papers

NM_000489.6

p.V2357_W2358Splc

c.7072-1G>T

1 paper

NM_000489.6

p.S2365ins3

c.7093_7094ins9

1 paper

NM_000489.6

p.S2365A

c.7093T>G

1 paper

NM_000489.6

p.S2365*

c.7094C>G

1 paper

NM_000489.6

p.S2365*

c.7094C>A

1 paper

NM_000489.6

p.E2366V

c.7097A>T

1 paper

NM_000489.6

p.E2366A

c.7097A>C