Varaico: Literature-Extracted Genetic Variants

Gene:RNF19A
Variant:p.V56D

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
1 paper
NM_183419.4
p.V56D
c.167T>A
Surrounding Variants
1 paper
NM_183419.4
p.S55L
c.164C>T
1 paper
NM_183419.4
p.S55*
c.164C>A
1 paper
NM_183419.4
p.S55A
c.163T>G
1 paper
NM_183419.4
p.L53_P54delFs
c.157_160del4
1 paper
NM_183419.4
p.K58N
c.174G>C
1 paper
NM_183419.4
p.A59P
c.175G>C
1 paper
NM_183419.4
p.L53*
c.158T>A
1 paper
NM_183419.4
p.L53L
c.157T>C
2 papers
NM_183419.4
p.L53M
c.157T>A
1 paper
NM_183419.4
p.V51A
c.152T>C
1 paper
NM_183419.4
p.V56_K62ins2
c.168_185dup18
1 paper
NM_183419.4
p.R64K
c.191G>A
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