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

5 papers

NM_000489.6

p.K1733E

c.5197A>G

Surrounding Variants

1 paper

NM_000489.6

p.S1732P

c.5194T>C

2 papers

NM_000489.6

p.M1735I

c.5205G>T

2 papers

NM_000489.6

p.M1735I

c.5205G>C

2 papers

NM_000489.6

p.M1735I

c.5205G>A

1 paper

NM_000489.6

p.A1730V

c.5189C>T

1 paper

NM_000489.6

p.A1730T

c.5188G>A

1 paper

NM_000489.6

p.S1729F

c.5186C>T

1 paper

NM_000489.6

p.S1729Y

c.5186C>A

1 paper

NM_000489.6

p.S1737C

c.5210C>G

1 paper

NM_000489.6

p.A1728S

c.5182G>T

1 paper

NM_000489.6

p.E1727insFs

c.5180dupA

1 paper

NM_000489.6

p.A1728P

c.5182G>C