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.G227V

c.680G>T

Surrounding Variants

1 paper

NM_000489.6

p.G227R

c.679G>C

1 paper

NM_000489.6

p.G227R

c.679G>A

1 paper

NM_000489.6

p.N228insFs

c.683dupA

1 paper

NM_000489.6

p.L229fs

c.685_686fs

1 paper

NM_000489.6

p.A224_E225del1

c.672_674delTCC

1 paper

NM_000489.6

p.E225A

c.674A>C

2 papers

NM_000489.6

p.L229F

c.687G>T

1 paper

NM_000489.6

p.E225*

c.673G>T

2 papers

NM_000489.6

p.L229F

c.687G>C

3 papers

NM_000489.6

p.A224V

c.671C>T

1 paper

NM_000489.6

p.A224T

c.670G>A

1 paper

NM_000489.6

p.C231F

c.692G>T