Varaico: Literature-Extracted Genetic Variants

Gene:RNF217
Variant:p.S187P

RNF217

33 papers

RefSeq Summary

This protein encoded by this gene is a member of the RING1-IBR-RING24 (RBR) ubiquitin protein ligase family, and it belongs to a subfamily of these proteins that contain a transmembrane domain. This p...

Pfam Domains

IBRaa 328–396UCSCIBR domain, a half RING-finger domain
IBR_1aa 418–465UCSCIBR domain

Gene Aliases

HGNC Name

ring finger protein 217

HGNC Previous Symbols

C6orf172; IBRDC1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001286398.3
p.S187P
c.559T>C
Surrounding Variants
1 paper
NM_001286398.3
p.Q181L
c.542A>T
1 paper
NM_001286398.3
p.P177P
c.531C>T
1 paper
NM_001286398.3
p.P207P
c.621C>A
1 paper
NM_001286398.3
p.S210P
c.628T>C
1 paper
NM_001286398.3
p.A230T
c.688G>A
1 paper
NM_001286398.3
p.A242A
c.726T>A
1 paper
NM_001286398.3
p.P243T
c.727C>A
1 paper
NM_001286398.3
p.P128fs
c.382_383fs
1 paper
NM_001286398.3
p.P129delFs
c.387delC
1 paper
NM_001286398.3
p.V251G
c.752T>G
1 paper
NM_001286398.3
p.P75R
c.224C>G
1 paper
NM_001286398.3
p.D63G
c.188A>G
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