Varaico: Literature-Extracted Genetic Variants

Gene:RNF43
Variant:p.R117fs

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
15 papers
NM_017763.6
p.R117fs
c.349_350fs
Surrounding Variants
1 paper
NM_017763.6
p.R117C
c.349C>T
3 papers
NM_017763.6
p.R117S
c.349C>A
3 papers
NM_017763.6
p.R117insFs
c.349dupC
1 paper
NM_017763.6
p.R117insFs
c.349_350insCC
2 papers
NM_017763.6
p.R117P
c.350G>C
26 papers
NM_017763.6
p.R117H
c.350G>A
1 paper
NM_017763.6
p.R117Fs
c.350delinsCAFs
5 papers
NM_017763.6
p.R117delFs
c.349delG
1 paper
NM_017763.6
p.R117Fs
c.349_350delinsAFs
48 papers
NM_017763.6
p.R117fs
c.349_350fs
3 papers
NM_017763.6
p.R117delFs
c.350delC
1 paper
NM_017763.6
p.P116S
c.346C>T
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