Varaico: Literature-Extracted Genetic Variants

Gene:RNF19A
Variant:p.K80I

RNF19A

1,086 papers

RefSeq Summary

This gene encodes a member of the ring between ring fingers (RBR) protein family, and the encoded protein contains two RING-finger motifs and an in between RING fingers motif. This protein is an E3 ub...

Pfam Domains

IBRaa 199–264UCSCIBR domain, a half RING-finger domain
IBR_1aa 296–338UCSCIBR domain

Gene Aliases

HGNC Name

ring finger protein 19A, RBR E3 ubiquitin protein ligase

HGNC Previous Symbol

RNF19

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_183419.4
p.K80I
c.239A>T
Surrounding Variants
2 papers
NM_183419.4
p.K80E
c.238A>G
1 paper
NM_183419.4
p.S81A
c.241T>G
2 papers
NM_183419.4
p.R79H
c.236G>A
2 papers
NM_183419.4
p.R79C
c.235C>T
1 paper
NM_183419.4
p.K78*
c.232A>T
1 paper
NM_183419.4
p.N77K
c.231C>G
1 paper
NM_183419.4
p.N77K
c.231C>A
1 paper
NM_183419.4
p.N77S
c.230A>G
1 paper
NM_183419.4
p.E83D
c.249G>T
1 paper
NM_183419.4
p.E83D
c.249G>C
1 paper
NM_183419.4
p.N77H
c.229A>C
1 paper
NM_183419.4
p.D76insFs
c.227dupA
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