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.F315_S316insFs

c.945_946insC

Surrounding Variants

1 paper

NM_000489.6

p.F315S

c.944T>C

1 paper

NM_000489.6

p.S316T

c.946T>A

1 paper

NM_000489.6

p.F315insFs

c.945dupT

1 paper

NM_000489.6

p.S316delFs

c.946_947delGA

1 paper

NM_000489.6

p.R314*

c.940A>T

1 paper

NM_000489.6

p.R314G

c.940A>G

1 paper

NM_000489.6

p.S313Y

c.938C>A

1 paper

NM_000489.6

p.S313fs

c.937_938fs

1 paper

NM_000489.6

p.K318R

c.953A>G

1 paper

NM_000489.6

p.K318insFs

c.952_953insA

1 paper

NM_000489.6

p.Y309_T312delFs

c.927_934del8

3 papers

NM_000489.6

p.K319*

c.955A>T