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.A400P

c.1198G>C

Surrounding Variants

1 paper

NM_000489.6

p.A400fs

c.1198_1199fs

1 paper

NM_000489.6

p.L399V

c.1195T>G

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.I402T

c.1205T>C

1 paper

NM_000489.6

p.I402N

c.1205T>A

1 paper

NM_000489.6

p.I402fs

c.1204_1205fs

1 paper

NM_000489.6

p.I402delFs

c.1204_1205delAT

2 papers

NM_000489.6

p.S397F

c.1190C>T

1 paper

NM_000489.6

p.K403fs

c.1207_1208fs

1 paper

NM_000489.6

p.K403*

c.1207A>T