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

2 papers

NM_000489.6

p.C280R

c.838T>C

Surrounding Variants

1 paper

NM_000489.6

p.C280fs

c.838_839fs

2 papers

NM_000489.6

p.C280insFs

c.839_840ins4

2 papers

NM_000489.6

p.C280Y

c.839G>A

1 paper

NM_000489.6

p.C280delFs

c.838delA

1 paper

NM_000489.6

p.P272_A279del0

c.816_836del21

1 paper

NM_000489.6

p.C280fs

c.838_839fs

1 paper

NM_000489.6

p.A279T

c.835G>A

1 paper

NM_000489.6

p.N281fs

c.841_842fs

1 paper

NM_000489.6

p.N281S

c.842A>G

1 paper

NM_000489.6

p.T278I

c.833C>T

1 paper

NM_000489.6

p.T278fs

c.832_833fs

1 paper

NM_000489.6

p.S282fs

c.844_845fs