Varaico: Literature-Extracted Genetic Variants

Gene:RNF43
Variant:p.L82*

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.L82*
c.245T>G
Surrounding Variants
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.K81R
c.242A>G
2 papers
NM_017763.6
p.M83I
c.249G>T
2 papers
NM_017763.6
p.M83I
c.249G>C
2 papers
NM_017763.6
p.M83I
c.249G>A
2 papers
NM_017763.6
p.Q84*
c.250C>T
1 paper
NM_017763.6
p.G80insFs
c.239_240insGG
1 paper
NM_017763.6
p.G80fs
c.238_239fs
3 papers
NM_017763.6
p.G80R
c.238G>C
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