Varaico: Literature-Extracted Genetic Variants

Gene:RNF19A
Variant:p.E199K

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.E199K
c.595G>A
Surrounding Variants
1 paper
NM_183419.4
p.L197V
c.589T>G
1 paper
NM_183419.4
p.L197L
c.589T>C
1 paper
NM_183419.4
p.V196I
c.586G>A
1 paper
NM_183419.4
p.D195A
c.584A>C
1 paper
NM_183419.4
p.E203K
c.607G>A
1 paper
NM_183419.4
p.D194N
c.580G>A
1 paper
NM_183419.4
p.L192_S193insG
c.574_578ins3
1 paper
NM_183419.4
p.I191delFs
c.573delT
1 paper
NM_183419.4
p.R207R
c.621A>G
1 paper
NM_183419.4
p.R207delFs
c.620_621delTC
1 paper
NM_183419.4
p.R208Q
c.623G>A
1 paper
NM_183419.4
p.W209*
c.626G>A
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