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.V348L

c.1042G>T

Surrounding Variants

1 paper

NM_000489.6

p.V348L

c.1042G>C

1 paper

NM_000489.6

p.I347M

c.1041T>G

1 paper

NM_000489.6

p.V348E

c.1043T>A

1 paper

NM_000489.6

p.K350E

c.1048A>G

1 paper

NM_000489.6

p.P349delFs

c.1047delG

1 paper

NM_000489.6

p.P349delFs

c.1045_1046delGG

1 paper

NM_000489.6

p.A345fs

c.1033_1034fs

1 paper

NM_000489.6

p.E351*

c.1051G>T

1 paper

NM_000489.6

p.A345T

c.1033G>A

2 papers

NM_000489.6

p.E351V

c.1052A>T

1 paper

NM_000489.6

p.E351D

c.1053G>T

1 paper

NM_000489.6

p.E351D

c.1053G>C