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.A364T

c.1090G>A

Surrounding Variants

1 paper

NM_000489.6

p.N365Y

c.1093A>T

1 paper

NM_000489.6

p.T362I

c.1085C>T

1 paper

NM_000489.6

p.N365delFs

c.1094delT

1 paper

NM_000489.6

p.M366fs

c.1096_1097fs

1 paper

NM_000489.6

p.M366delFs

c.1096delT

4 papers

NM_000489.6

p.I360_E361delFs

c.1079_1082del4

1 paper

NM_000489.6

p.M366I

c.1098G>C

1 paper

NM_000489.6

p.M366delFs

c.1096_1097delAT

1 paper

NM_000489.6

p.N367fs

c.1099_1100fs

6 papers

NM_000489.6

p.I360fs

c.1078_1079fs

1 paper

NM_000489.6

p.N367S

c.1100A>G

2 papers

NM_000489.6

p.I360fs

c.1078_1079fs