Varaico: Literature-Extracted Genetic Variants

Gene:RNF43
Variant:p.Q44fs

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.Q44fs
c.130_131fs
Surrounding Variants
1 paper
NM_017763.6
p.Q44L
c.131A>T
1 paper
NM_017763.6
p.A42_E43delFs
c.124_128del5
1 paper
NM_017763.6
p.Q44insFs
c.131dupA
1 paper
NM_017763.6
p.E43delFs
c.127delC
2 papers
NM_017763.6
p.E43*
c.127G>T
1 paper
NM_017763.6
p.E43fs
c.127_128fs
2 papers
NM_017763.6
p.K45fs
c.133_134fs
1 paper
NM_017763.6
p.A42fs
c.124_125fs
1 paper
NM_017763.6
p.A42Fs
c.125delinsTTFs
1 paper
NM_017763.6
p.R40_A42insFs
c.120_124dup5
1 paper
NM_017763.6
p.K45fs
c.133_134fs
1 paper
NM_017763.6
p.A42T
c.124G>A
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."