Varaico: Literature-Extracted Genetic Variants

Gene:RNF43
Variant:p.I141fs

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.I141fs
c.421_422fs
Surrounding Variants
2 papers
NM_017763.6
p.I141N
c.422T>A
1 paper
NM_017763.6
p.D140E
c.420C>G
1 paper
NM_017763.6
p.D140E
c.420C>A
1 paper
NM_017763.6
p.D140V
c.419A>T
1 paper
NM_017763.6
p.D140G
c.419A>G
1 paper
NM_017763.6
p.V137_D140del0
c.410_418del9
1 paper
NM_017763.6
p.D140Y
c.418G>T
2 papers
NM_017763.6
p.D140H
c.418G>C
1 paper
NM_017763.6
p.T142A
c.424A>G
1 paper
NM_017763.6
p.F139fs
c.415_416fs
1 paper
NM_017763.6
p.A136_V137insFs
c.408_411dup4
1 paper
NM_017763.6
p.V137fs
c.409_410fs
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."