Varaico: Literature-Extracted Genetic Variants

Gene:RNF43
Variant:p.L405L

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.L405L
c.1213C>T
Surrounding Variants
1 paper
NM_017763.6
p.R404fs
c.1210_1211fs
1 paper
NM_017763.6
p.R404H
c.1211G>A
4 papers
NM_017763.6
p.R404C
c.1210C>T
1 paper
NM_017763.6
p.Q403insFs
c.1209dupG
1 paper
NM_017763.6
p.R404S
c.1210C>A
1 paper
NM_017763.6
p.Q403delFs
c.1209delC
1 paper
NM_017763.6
p.Q403P
c.1208A>C
1 paper
NM_017763.6
p.Q403*
c.1207C>T
1 paper
NM_017763.6
p.Q403K
c.1207C>A
2 papers
NM_017763.6
p.Q402*
c.1204C>T
1 paper
NM_017763.6
p.E401*
c.1201G>T
1 paper
NM_017763.6
p.E401K
c.1201G>A
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