Varaico: Literature-Extracted Genetic Variants

Gene:RNF43
Variant:p.G80R

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
3 papers
NM_017763.6
p.G80R
c.238G>A
Surrounding Variants
3 papers
NM_017763.6
p.G80R
c.238G>C
1 paper
NM_017763.6
p.G80insFs
c.239_240insGG
1 paper
NM_017763.6
p.G80fs
c.238_239fs
1 paper
NM_017763.6
p.K81R
c.242A>G
3 papers
NM_017763.6
p.A78T
c.232G>A
1 paper
NM_017763.6
p.A78fs
c.232_233fs
2 papers
NM_017763.6
p.L82*
c.245T>G
3 papers
NM_017763.6
p.L82S
c.245T>C
2 papers
NM_017763.6
p.L82*
c.245T>A
1 paper
NM_017763.6
p.L82fs
c.244_245fs
1 paper
NM_017763.6
p.L82delFs
c.245delA
1 paper
NM_017763.6
p.I75_T76delFs
c.225_228del4
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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."