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.Q2370*

c.7108C>T

Surrounding Variants

1 paper

NM_000489.6

p.V2369A

c.7106T>C

3 papers

NM_000489.6

p.A2371V

c.7112C>T

1 paper

NM_000489.6

p.A2371G

c.7112C>G

1 paper

NM_000489.6

p.V2369_A2371delFs

c.7105_7111del7

2 papers

NM_000489.6

p.Q2368*

c.7102C>T

1 paper

NM_000489.6

p.A2367G

c.7100C>G

1 paper

NM_000489.6

p.A2367D

c.7100C>A

1 paper

NM_000489.6

p.A2373G

c.7118C>G

1 paper

NM_000489.6

p.E2366V

c.7097A>T

1 paper

NM_000489.6

p.E2366A

c.7097A>C

1 paper

NM_000489.6

p.S2365*

c.7094C>G

1 paper

NM_000489.6

p.S2365*

c.7094C>A