Varaico: Literature-Extracted Genetic Variants

Gene:RNF43
Variant:p.K54*

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.K54*
c.160A>T
Surrounding Variants
1 paper
NM_017763.6
p.L53F
c.159G>T
1 paper
NM_017763.6
p.L53F
c.159G>C
1 paper
NM_017763.6
p.L53_K54ins4
c.157_161ins12
2 papers
NM_017763.6
p.P52delFs
c.156delG
1 paper
NM_017763.6
p.I47_M55Fs
c.139_163delinsGCTGTTCTTFs
1 paper
NM_017763.6
p.P52fs
c.154_155fs
2 papers
NM_017763.6
p.P52L
c.155C>T
2 papers
NM_017763.6
p.D56H
c.166G>C
1 paper
NM_017763.6
p.P52S
c.154C>T
1 paper
NM_017763.6
p.I51_P52insFs
c.153_154ins4
1 paper
NM_017763.6
p.D56G
c.167A>G
1 paper
NM_017763.6
p.R49_V50delFs
c.147_148delCT
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."