Varaico: Literature-Extracted Genetic Variants

Gene:RNF43
Variant:p.L63_T64del0

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.L63_T64del0
c.187_192del6
Surrounding Variants
1 paper
NM_017763.6
p.L65fs
c.193_194fs
1 paper
NM_017763.6
p.L65F
c.195G>T
1 paper
NM_017763.6
p.L65F
c.195G>C
1 paper
NM_017763.6
p.L65delFs
c.194delA
1 paper
NM_017763.6
p.T64N
c.191C>A
1 paper
NM_017763.6
p.E66*
c.196G>T
1 paper
NM_017763.6
p.T64P
c.190A>C
1 paper
NM_017763.6
p.N62_L63delFs
c.186_187delGA
1 paper
NM_017763.6
p.G67C
c.199G>T
1 paper
NM_017763.6
p.G67S
c.199G>A
2 papers
NM_017763.6
p.L63F
c.187C>T
3 papers
NM_017763.6
p.G67D
c.200G>A
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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."