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.C235fs

c.703_704fs

Surrounding Variants

1 paper

NM_000489.6

p.C235insFs

c.704_705insAG

1 paper

NM_000489.6

p.C235delFs

c.703delA

1 paper

NM_000489.6

p.C232_C235delFs

c.696_705del10

1 paper

NM_000489.6

p.H236fs

c.706_707fs

1 paper

NM_000489.6

p.H236delFs

c.707delT

1 paper

NM_000489.6

p.N237fs

c.709_710fs

1 paper

NM_000489.6

p.N237D

c.709A>G

2 papers

NM_000489.6

p.F234I

c.700T>A

1 paper

NM_000489.6

p.D233_F234insT

c.697_701ins3

1 paper

NM_000489.6

p.F239V

c.715T>G

4 papers

NM_000489.6

p.F239L

c.715T>C

1 paper

NM_000489.6

p.F239F

c.717C>T