Varaico: Literature-Extracted Genetic Variants

Gene:RNF43
Variant:p.Q8fs

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.Q8fs
c.22_23fs
Surrounding Variants
1 paper
NM_017763.6
p.Q8H
c.24G>T
1 paper
NM_017763.6
p.Q8insFs
c.23dupA
1 paper
NM_017763.6
p.L9P
c.26T>C
1 paper
NM_017763.6
p.L9L
c.27G>T
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.A10V
c.29C>T
1 paper
NM_017763.6
p.L7M
c.19C>A
1 paper
NM_017763.6
p.L9delFs
c.27delC
1 paper
NM_017763.6
p.A10A
c.30T>C
1 paper
NM_017763.6
p.A11fs
c.31_32fs
1 paper
NM_017763.6
p.Q6fs
c.16_17fs
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."