Varaico: Literature-Extracted Genetic Variants

Gene:RNF43

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
1–12 of 1078 variants
104 papers
NM_017763.6
p.G659fs
c.1975_1976fs
61 papers
NM_017763.6
p.G659fs
c.1975_1976fs
48 papers
NM_017763.6
p.R117fs
c.349_350fs
41 papers
NM_017763.6
p.G659delFs
c.1976delC
34 papers
NM_017763.6
p.R132*
c.394C>T
28 papers
NM_017763.6
p.R113*
c.337C>T
26 papers
NM_017763.6
p.R117H
c.350G>A
23 papers
NM_017763.6
p.I47V
c.139A>G
23 papers
NM_017763.6
p.R371*
c.1111C>T
22 papers
NM_017763.6
p.L418M
c.1252C>A
20 papers
NM_017763.6
p.R145*
c.433C>T
15 papers
NM_017763.6
p.R117fs
c.349_350fs
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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."