Varaico: Literature-Extracted Genetic Variants

Gene:RNF43
Variant:p.S502I

RNF43

722 papers

RefSeq Summary

The protein encoded by this gene is a RING-type E3 ubiquitin ligase and is predicted to contain a transmembrane domain, a protease-associated domain, an ectodomain, and a cytoplasmic RING domain. This...

Pfam Domains

ZNRF_3_ectoaa 85–189UCSCZNRF-3 Ectodomain
zf-RING_2aa 270–313UCSCRing finger domain

Gene Aliases

HGNC Name

ring finger protein 43

HGNC Alias Symbols

FLJ20315; RNF124; DKFZp781H0392; URCC

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_017763.6
p.S502I
c.1505G>T
Surrounding Variants
1 paper
NM_017763.6
p.S502G
c.1504A>G
1 paper
NM_017763.6
p.D506H
c.1516G>C
1 paper
NM_017763.6
p.F497_F505del9
c.1489_1514del27
1 paper
NM_017763.6
p.P507S
c.1519C>T
1 paper
NM_017763.6
p.L508V
c.1522C>G
1 paper
NM_017763.6
p.V509A
c.1526T>C
1 paper
NM_017763.6
p.S495P
c.1483T>C
1 paper
NM_017763.6
p.S493N
c.1478G>A
1 paper
NM_017763.6
p.C511C
c.1533C>T
1 paper
NM_017763.6
p.G492D
c.1475G>A
1 paper
NM_017763.6
p.P513insFs
c.1538dupC
4 papers
NM_017763.6
p.V490fs
c.1468_1469fs
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."