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.A1593D

c.4778C>A

Surrounding Variants

2 papers

NM_000489.6

p.A1593V

c.4778C>T

1 paper

NM_000489.6

p.H1594fs

c.4780_4781fs

1 paper

NM_000489.6

p.L1592R

c.4775T>G

2 papers

NM_000489.6

p.L1592H

c.4775T>A

1 paper

NM_000489.6

p.H1594R

c.4781A>G

1 paper

NM_000489.6

p.H1594delFs

c.4780delG

1 paper

NM_000489.6

p.C1595*

c.4785T>A

3 papers

NM_000489.6

p.M1596V

c.4786A>G

1 paper

NM_000489.6

p.C1590Y

c.4769G>A

3 papers

NM_000489.6

p.M1596I

c.4788G>T

3 papers

NM_000489.6

p.M1596I

c.4788G>C

3 papers

NM_000489.6

p.M1596I

c.4788G>A