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.L331S

c.992T>C

Surrounding Variants

1 paper

NM_000489.6

p.L331*

c.992T>G

1 paper

NM_000489.6

p.L331*

c.992T>A

1 paper

NM_000489.6

p.K330insFs

c.990dupA

1 paper

NM_000489.6

p.K329_K330delFs

c.986_990del5

2 papers

NM_000489.6

p.L331F

c.993A>T

2 papers

NM_000489.6

p.L331F

c.993A>C

1 paper

NM_000489.6

p.D332N

c.994G>A

1 paper

NM_000489.6

p.K330fs

c.988_989fs

3 papers

NM_000489.6

p.D332G

c.995A>G

NM_138270.5

p.D294G

c.881A>G

1 paper

NM_000489.6

p.D332_D333insFs

c.996_997insG

1 paper

NM_000489.6

p.K330*

c.988A>T

1 paper

NM_000489.6

p.K330fs

c.988_989fs