Varaico: Literature-Extracted Genetic Variants

Gene:RNF43
Variant:p.A23fs

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.A23fs
c.67_68fs
Surrounding Variants
1 paper
NM_017763.6
p.A23P
c.67G>C
2 papers
NM_017763.6
p.Q22K
c.64C>A
1 paper
NM_017763.6
p.F25fs
c.73_74fs
1 paper
NM_017763.6
p.T20I
c.59C>T
3 papers
NM_017763.6
p.G26G
c.78A>T
1 paper
NM_017763.6
p.G26fs
c.76_77fs
2 papers
NM_017763.6
p.R27C
c.79C>T
3 papers
NM_017763.6
p.M18fs
c.52_53fs
1 paper
NM_017763.6
p.M18insFs
c.53_54ins4
1 paper
NM_017763.6
p.M18fs
c.52_53fs
1 paper
NM_017763.6
p.T28A
c.82A>G
1 paper
NM_017763.6
p.R27del1
c.79_80delGCG
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