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.P694delFs

c.2081delG

Surrounding Variants

1 paper

NM_000489.6

p.P694fs

c.2080_2081fs

1 paper

NM_000489.6

p.V695L

c.2083G>T

1 paper

NM_000489.6

p.V695L

c.2083G>C

1 paper

NM_000489.6

p.P694S

c.2080C>T

2 papers

NM_000489.6

p.S692*

c.2075C>G

2 papers

NM_000489.6

p.S692*

c.2075C>A

1 paper

NM_000489.6

p.K697E

c.2089A>G

1 paper

NM_000489.6

p.R696_K697del1

c.2087_2089delTTC

1 paper

NM_000489.6

p.L691R

c.2072T>G

1 paper

NM_000489.6

p.L691delFs

c.2071delG

1 paper

NM_000489.6

p.K698*

c.2092A>T

1 paper

NM_000489.6

p.K690insFs

c.2070dupA