Varaico: Literature-Extracted Genetic Variants

Gene:RNF43
Variant:p.R27C

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
2 papers
NM_017763.6
p.R27C
c.79C>T
Surrounding Variants
3 papers
NM_017763.6
p.G26G
c.78A>T
1 paper
NM_017763.6
p.G26fs
c.76_77fs
1 paper
NM_017763.6
p.T28A
c.82A>G
1 paper
NM_017763.6
p.R27del1
c.79_80delGCG
1 paper
NM_017763.6
p.F25fs
c.73_74fs
1 paper
NM_017763.6
p.T28I
c.83C>T
1 paper
NM_017763.6
p.G29V
c.86G>T
1 paper
NM_017763.6
p.G29G
c.87A>T
1 paper
NM_017763.6
p.G29G
c.87A>G
1 paper
NM_017763.6
p.G29fs
c.85_86fs
1 paper
NM_017763.6
p.G29_L30insFs
c.87_88dupAC
2 papers
NM_017763.6
p.L30fs
c.88_89fs
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