Varaico: Literature-Extracted Genetic Variants

Gene:RNF43
Variant:p.P377S

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.P377S
c.1129C>T
Surrounding Variants
1 paper
NM_017763.6
p.S378C
c.1133C>G
1 paper
NM_017763.6
p.F375L
c.1125C>G
1 paper
NM_017763.6
p.F375L
c.1125C>A
1 paper
NM_017763.6
p.F375L
c.1123T>C
1 paper
NM_017763.6
p.E380D
c.1140G>T
1 paper
NM_017763.6
p.E380D
c.1140G>C
1 paper
NM_017763.6
p.P372H
c.1115C>A
4 papers
NM_017763.6
p.P372S
c.1114C>T
1 paper
NM_017763.6
p.G382D
c.1145G>A
1 paper
NM_017763.6
p.R371fs
c.1111_1112fs
1 paper
NM_017763.6
p.R371L
c.1112G>T
23 papers
NM_017763.6
p.R371*
c.1111C>T
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