Varaico: Literature-Extracted Genetic Variants

Gene:RNF43
Variant:p.T76fs

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.T76fs
c.226_227fs
Surrounding Variants
1 paper
NM_017763.6
p.T76I
c.227C>T
1 paper
NM_017763.6
p.I75insFs
c.224_225insT
1 paper
NM_017763.6
p.I75fs
c.223_224fs
1 paper
NM_017763.6
p.I75R
c.224T>G
1 paper
NM_017763.6
p.I75_T76delFs
c.225_228del4
1 paper
NM_017763.6
p.A73_E74delFs
c.218_222del5
3 papers
NM_017763.6
p.A78T
c.232G>A
1 paper
NM_017763.6
p.V72_A73delFs
c.215_219del5
1 paper
NM_017763.6
p.A78fs
c.232_233fs
2 papers
NM_017763.6
p.A73V
c.218C>T
1 paper
NM_017763.6
p.V72fs
c.214_215fs
3 papers
NM_017763.6
p.G80R
c.238G>C
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."