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

10 papers

NM_000489.6

p.R1514*

c.4540C>T

Surrounding Variants

1 paper

NM_000489.6

p.E1513G

c.4538A>G

2 papers

NM_000489.6

p.E1515*

c.4543G>T

3 papers

NM_000489.6

p.R1512H

c.4535G>A

1 paper

NM_000489.6

p.E1515D

c.4545A>T

1 paper

NM_000489.6

p.E1515D

c.4545A>C

1 paper

NM_000489.6

p.E1515fs

c.4543_4544fs

2 papers

NM_000489.6

p.R1512C

c.4534C>T

1 paper

NM_000489.6

p.L1517insFs

c.4549_4550insC

1 paper

NM_000489.6

p.L1517M

c.4549T>A

1 paper

NM_000489.6

p.K1516delFs

c.4548delT

1 paper

NM_000489.6

p.E1511*

c.4531G>T

1 paper

NM_000489.6

p.A1508_R1510delFs

c.4522_4529del8