Varaico: Literature-Extracted Genetic Variants

Gene:RNF43
Variant:p.H5insFs

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.H5insFs
c.14_15insA
Surrounding Variants
1 paper
NM_017763.6
p.Q6fs
c.16_17fs
2 papers
NM_017763.6
p.Q6*
c.16C>T
1 paper
NM_017763.6
p.H5fs
c.13_14fs
1 paper
NM_017763.6
p.L7M
c.19C>A
1 paper
NM_017763.6
p.G4fs
c.10_11fs
1 paper
NM_017763.6
p.L7fs
c.19_20fs
1 paper
NM_017763.6
p.H5_L7delFs
c.13_20del8
1 paper
NM_017763.6
p.G3fs
c.7_8fs
1 paper
NM_017763.6
p.G3S
c.7G>A
1 paper
NM_017763.6
p.Q8H
c.24G>T
1 paper
NM_017763.6
p.Q8fs
c.22_23fs
1 paper
NM_017763.6
p.Q8insFs
c.23dupA
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