Varaico: Literature-Extracted Genetic Variants

Gene:RNF43
Variant:p.M1I

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
3 papers
NM_017763.6
p.M1I
c.3G>C
Surrounding Variants
3 papers
NM_017763.6
p.M1I
c.3G>T
1 paper
NM_017763.6
p.M1fs
c.1_2fs
3 papers
NM_017763.6
p.M1I
c.3G>A
1 paper
NM_017763.6
p.M1insFs
c.2_3insAC
1 paper
NM_017763.6
p.S2C
c.4A>T
1 paper
NM_017763.6
p.S2_G3insAC
c.4_8ins6
1 paper
NM_017763.6
p.M1L
c.1A>T
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.G4fs
c.10_11fs
1 paper
NM_017763.6
p.H5fs
c.13_14fs
1 paper
NM_017763.6
p.H5insFs
c.14_15insA
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."