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.E416*

c.1246G>T

Surrounding Variants

1 paper

NM_000489.6

p.E416K

c.1246G>A

13 papers

NM_000489.6

p.R418*

c.1252C>T

1 paper

NM_000489.6

p.R418L

c.1253G>T

1 paper

NM_000489.6

p.L413fs

c.1237_1238fs

1 paper

NM_000489.6

p.L413delFs

c.1237_1238delAA

1 paper

NM_000489.6

p.L413*

c.1238T>G

1 paper

NM_000489.6

p.L413*

c.1238T>A

1 paper

NM_000489.6

p.L413V

c.1237T>G

1 paper

NM_000489.6

p.A419T

c.1255G>A

1 paper

NM_000489.6

p.L413fs

c.1237_1238fs

8 papers

NM_000489.6

p.A419V

c.1256C>T

1 paper

NM_000489.6

p.A419A

c.1257G>A