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

3 papers

NM_000489.6

p.Q476*

c.1426C>T

Surrounding Variants

1 paper

NM_000489.6

p.H475Y

c.1423C>T

1 paper

NM_000489.6

p.H475D

c.1423C>G

1 paper

NM_000489.6

p.M474delFs

c.1421_1422delCA

1 paper

NM_000489.6

p.N477_V478insA

c.1429_1433ins3

2 papers

NM_000489.6

p.M474I

c.1422G>T

1 paper

NM_000489.6

p.M474fs

c.1420_1421fs

2 papers

NM_000489.6

p.M474I

c.1422G>C

2 papers

NM_000489.6

p.M474I

c.1422G>A

1 paper

NM_000489.6

p.H473_M474insFs

c.1419_1420dupCA

1 paper

NM_000489.6

p.E472_M474delFs

c.1416_1420del5

1 paper

NM_000489.6

p.N477_V478ins0

c.1431_1433dupTGT

1 paper

NM_000489.6

p.P479T

c.1435C>A