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.Q376*

c.1126C>T

Surrounding Variants

1 paper

NM_000489.6

p.K375insFs

c.1125dupG

1 paper

NM_000489.6

p.K375delFs

c.1123_1124delTT

1 paper

NM_000489.6

p.Q376H

c.1128G>T

1 paper

NM_000489.6

p.Q376H

c.1128G>C

1 paper

NM_000489.6

p.Q376Q

c.1128G>A

1 paper

NM_000489.6

p.A377V

c.1130C>T

1 paper

NM_000489.6

p.L374fs

c.1120_1121fs

1 paper

NM_000489.6

p.Q376_D379delFs

c.1126_1136del11

1 paper

NM_000489.6

p.K372*

c.1114A>T

1 paper

NM_000489.6

p.N380I

c.1139A>T

1 paper

NM_000489.6

p.V371F

c.1111G>T

1 paper

NM_000489.6

p.V371L

c.1111G>C