Varaico: Literature-Extracted Genetic Variants

Gene:RNF43
Variant:p.S593A

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.S593A
c.1777T>G
Surrounding Variants
1 paper
NM_017763.6
p.D595Y
c.1783G>T
1 paper
NM_017763.6
p.D595V
c.1784A>T
2 papers
NM_017763.6
p.E590K
c.1768G>A
2 papers
NM_017763.6
p.Q596*
c.1786C>T
1 paper
NM_017763.6
p.P589A
c.1765C>G
2 papers
NM_017763.6
p.Q588*
c.1762C>T
1 paper
NM_017763.6
p.P587S
c.1759C>T
1 paper
NM_017763.6
p.Q586*
c.1756C>T
1 paper
NM_017763.6
p.T585del1
c.1753_1754delTGT
1 paper
NM_017763.6
p.R600G
c.1798A>G
2 papers
NM_017763.6
p.R600S
c.1800A>T
2 papers
NM_017763.6
p.R600S
c.1800A>C
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