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.E1509K

c.4525G>A

Surrounding Variants

1 paper

NM_000489.6

p.E1511*

c.4531G>T

1 paper

NM_000489.6

p.A1508_R1510delFs

c.4522_4529del8

1 paper

NM_000489.6

p.R1506H

c.4517G>A

2 papers

NM_000489.6

p.R1512C

c.4534C>T

3 papers

NM_000489.6

p.R1512H

c.4535G>A

1 paper

NM_000489.6

p.K1505*

c.4513A>T

1 paper

NM_000489.6

p.E1513G

c.4538A>G

1 paper

NM_000489.6

p.R1504L

c.4511G>T

2 papers

NM_000489.6

p.R1504Q

c.4511G>A

11 papers

NM_000489.6

p.R1504*

c.4510C>T

10 papers

NM_000489.6

p.R1514*

c.4540C>T

1 paper

NM_000489.6

p.R1504fs

c.4510_4511fs