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.G1597D

c.4790G>A

Surrounding Variants

1 paper

NM_000489.6

p.G1597V

c.4790G>T

1 paper

NM_000489.6

p.G1597delins

c.4790_4791delinsTT

1 paper

NM_000489.6

p.G1597fs

c.4789_4790fs

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

1 paper

NM_000489.6

p.L1598I

c.4792C>A

3 papers

NM_000489.6

p.M1596V

c.4786A>G

1 paper

NM_000489.6

p.C1595*

c.4785T>A

3 papers

NM_000489.6

p.G1599C

c.4795G>T

6 papers

NM_138270.5

p.K1562R

c.4685A>G

NM_000489.6

p.K1600R

c.4799A>G

1 paper

NM_000489.6

p.H1594R

c.4781A>G