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.F395_K396delFs

c.1185_1186delTA

Surrounding Variants

2 papers

NM_000489.6

p.K396M

c.1187A>T

1 paper

NM_000489.6

p.K396*

c.1186A>T

1 paper

NM_000489.6

p.K396Q

c.1186A>C

2 papers

NM_000489.6

p.S397F

c.1190C>T

1 paper

NM_000489.6

p.F395fs

c.1183_1184fs

2 papers

NM_000489.6

p.V398L

c.1192G>T

2 papers

NM_000489.6

p.V398L

c.1192G>C

1 paper

NM_000489.6

p.V398fs

c.1192_1193fs

1 paper

NM_000489.6

p.A394T

c.1180G>A

1 paper

NM_000489.6

p.L399V

c.1195T>G

1 paper

NM_000489.6

p.I383_L392delFs

c.1149_1176del28

1 paper

NM_000489.6

p.A400fs

c.1198_1199fs