Varaico: Literature-Extracted Genetic Variants

Gene:RNF43
Variant:p.R600S

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.R600S
c.1800A>C
Surrounding Variants
2 papers
NM_017763.6
p.R600S
c.1800A>T
1 paper
NM_017763.6
p.Q596_R600del5
c.1786_1799del15
1 paper
NM_017763.6
p.R600G
c.1798A>G
1 paper
NM_017763.6
p.S603L
c.1808C>T
1 paper
NM_017763.6
p.S603*
c.1808C>G
1 paper
NM_017763.6
p.S603*
c.1808C>A
1 paper
NM_017763.6
p.A604V
c.1811C>T
2 papers
NM_017763.6
p.Q596*
c.1786C>T
1 paper
NM_017763.6
p.D595V
c.1784A>T
1 paper
NM_017763.6
p.D595Y
c.1783G>T
1 paper
NM_017763.6
p.P606H
c.1817C>A
11 papers
NM_017763.6
p.S607L
c.1820C>T
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