Varaico: Literature-Extracted Genetic Variants

Gene:RNF43
Variant:p.S474P

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
2 papers
NM_017763.6
p.S474P
c.1420T>C
Surrounding Variants
1 paper
NM_017763.6
p.S474A
c.1420T>G
1 paper
NM_017763.6
p.G473delFs
c.1418delC
1 paper
NM_017763.6
p.S475A
c.1423T>G
1 paper
NM_017763.6
p.H472fs
c.1414_1415fs
1 paper
NM_017763.6
p.S475F
c.1424C>T
1 paper
NM_017763.6
p.S475Y
c.1424C>A
1 paper
NM_017763.6
p.H472Y
c.1414C>T
1 paper
NM_017763.6
p.C471*
c.1413T>A
1 paper
NM_017763.6
p.S476del1
c.1426_1427delACT
1 paper
NM_017763.6
p.S478A
c.1432T>G
2 papers
NM_017763.6
p.S478P
c.1432T>C
1 paper
NM_017763.6
p.G469del1
c.1405_1406delCCC
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