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.E1460D

c.4380A>T

Surrounding Variants

1 paper

NM_000489.6

p.E1460D

c.4380A>C

14 papers

NM_000489.6

p.E1459_E1460del1

c.4377_4379delTCC

1 paper

NM_000489.6

p.E1458_E1460del0

c.4374_4379del6

1 paper

NM_000489.6

p.E1461K

c.4381G>A

1 paper

NM_000489.6

p.E1460K

c.4378G>A

1 paper

NM_000489.6

p.E1459fs

c.4375_4376fs

1 paper

NM_000489.6

p.E1460del1

c.4378_4379delTTC

1 paper

NM_000489.6

p.E1459insFs

c.4375_4376ins5

1 paper

NM_000489.6

p.E1462fs

c.4384_4385fs

1 paper

NM_000489.6

p.E1462delFs

c.4385_4386delCT

1 paper

NM_000489.6

p.E1458A

c.4373A>C

1 paper

NM_000489.6

p.E1458ins1

c.4373_4374insGGA