Varaico: Literature-Extracted Genetic Variants

Gene:RNF43
Variant:p.R363fs

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.R363fs
c.1087_1088fs
Surrounding Variants
1 paper
NM_017763.6
p.R363W
c.1087C>T
1 paper
NM_017763.6
p.R363delFs
c.1087delG
1 paper
NM_017763.6
p.R363fs
c.1087_1088fs
1 paper
NM_017763.6
p.S362Y
c.1085C>A
9 papers
NM_017763.6
p.A365T
c.1093G>A
1 paper
NM_017763.6
p.G360delFs
c.1079delC
1 paper
NM_017763.6
p.G360fs
c.1078_1079fs
1 paper
NM_017763.6
p.V366delFs
c.1096delC
1 paper
NM_017763.6
p.V366fs
c.1096_1097fs
1 paper
NM_017763.6
p.L358P
c.1073T>C
1 paper
NM_017763.6
p.R368fs
c.1102_1103fs
1 paper
NM_017763.6
p.R368Q
c.1103G>A
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