Varaico: Literature-Extracted Genetic Variants

ARIH2

44 papers

RefSeq Summary

The protein encoded by this gene is an E3 ubiquitin-protein ligase that polyubiquitinates some proteins, tagging them for degradation. The encoded protein upregulates p53 in some cancer cells and may ...

Pfam Domains

UBA_ARIH2_Naa 66–120UCSCE3 ubiquitin-protein ligase ARIH2, N-terminal UBA domain

zf-C3HC4aa 139–190UCSCZinc finger, C3HC4 type (RING finger)

IBRaa 208–270UCSCIBR domain, a half RING-finger domain

IBR_1aa 292–341UCSCIBR domain

Ariadneaa 363–482UCSCAriadne domain

Gene Aliases

HGNC Name

ariadne RBR E3 ubiquitin protein ligase 2

HGNC Alias Symbol

TRIAD1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_006321.4

p.K319K

c.957A>G

Surrounding Variants

1 paper

NM_006321.4

p.H320P

c.959A>C

1 paper

NM_006321.4

p.S316F

c.947C>T

3 papers

NM_006321.4

p.C310S

c.929G>C

3 papers

NM_006321.4

p.C310S

c.928T>A

1 paper

NM_006321.4

p.E305K

c.913G>A

1 paper

NM_006321.4

p.E305Q

c.913G>C

1 paper

NM_006321.4

p.P298S

c.892C>T

1 paper

NM_006321.4

p.H293D

c.877C>G

1 paper

NM_006321.4

p.I273V

c.817A>G

1 paper

NM_006321.4

p.K259R

c.776A>G

1 paper

NM_006321.4

p.R246Q

c.737G>A

4 papers

NM_006321.4

p.E382A

c.1145A>C