Varaico: Literature-Extracted Genetic Variants

Gene:RNF43
Variant:p.Q150insFs

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.Q150insFs
c.448dupC
Surrounding Variants
1 paper
NM_017763.6
p.Q150L
c.449A>T
1 paper
NM_017763.6
p.A146_Q150delFs
c.438_448del11
1 paper
NM_017763.6
p.Q150fs
c.448_449fs
1 paper
NM_017763.6
p.I141_Q150delFs
c.422_449del28
1 paper
NM_017763.6
p.Q150_L151Splc
c.450+1G>A
1 paper
NM_017763.6
p.Q150_L151Splc
c.450+2T>C
1 paper
NM_017763.6
p.A147_A148del2
c.439_443del6
2 papers
NM_017763.6
p.E149Q
c.445G>C
8 papers
NM_017763.6
p.A148G
c.443C>G
1 paper
NM_017763.6
p.A147P
c.439G>C
1 paper
NM_017763.6
p.A146fs
c.436_437fs
4 papers
NM_017763.6
p.A146V
c.437C>T
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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."