Varaico: Literature-Extracted Genetic Variants

Gene:RNF43
Variant:p.S493N

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.S493N
c.1478G>A
Surrounding Variants
1 paper
NM_017763.6
p.G492D
c.1475G>A
1 paper
NM_017763.6
p.S495P
c.1483T>C
4 papers
NM_017763.6
p.V490fs
c.1468_1469fs
2 papers
NM_017763.6
p.G489delFs
c.1466delC
1 paper
NM_017763.6
p.V490fs
c.1468_1469fs
1 paper
NM_017763.6
p.G489R
c.1465G>C
1 paper
NM_017763.6
p.G489R
c.1465G>A
1 paper
NM_017763.6
p.Q488P
c.1463A>C
1 paper
NM_017763.6
p.Q488fs
c.1462_1463fs
1 paper
NM_017763.6
p.Q488_G489ins4
c.1462_1466ins12
1 paper
NM_017763.6
p.L487fs
c.1459_1460fs
1 paper
NM_017763.6
p.L487_Q488insT
c.1459_1463ins3
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