Varaico: Literature-Extracted Genetic Variants

Gene:RNF43
Variant:p.S455fs

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.S455fs
c.1363_1364fs
Surrounding Variants
1 paper
NM_017763.6
p.G456fs
c.1366_1367fs
1 paper
NM_017763.6
p.R454H
c.1361G>A
1 paper
NM_017763.6
p.Y457C
c.1370A>G
2 papers
NM_017763.6
p.E453K
c.1357G>A
1 paper
NM_017763.6
p.A459V
c.1376C>T
1 paper
NM_017763.6
p.D460_G461insC
c.1378_1382ins3
1 paper
NM_017763.6
p.C451Y
c.1352G>A
1 paper
NM_017763.6
p.A459delFs
c.1376_1377delTG
1 paper
NM_017763.6
p.Y450fs
c.1348_1349fs
1 paper
NM_017763.6
p.G461_P462insC
c.1381_1385ins3
1 paper
NM_017763.6
p.G461delFs
c.1383delC
1 paper
NM_017763.6
p.S449C
c.1345A>T
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