Varaico: Literature-Extracted Genetic Variants

Gene:RNF43
Variant:p.L326Q

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.L326Q
c.977T>A
Surrounding Variants
1 paper
NM_017763.6
p.Q324K
c.970C>A
7 papers
NM_017763.6
p.R330*
c.988C>T
2 papers
NM_017763.6
p.R330fs
c.988_989fs
2 papers
NM_017763.6
p.R330Q
c.989G>A
4 papers
NM_017763.6
p.R330fs
c.988_989fs
1 paper
NM_017763.6
p.S331P
c.991T>C
1 paper
NM_017763.6
p.S331F
c.992C>T
1 paper
NM_017763.6
p.S321*
c.962C>G
1 paper
NM_017763.6
p.S321insFs
c.961_962insT
1 paper
NM_017763.6
p.S321*
c.962C>A
1 paper
NM_017763.6
p.D320Y
c.958G>T
2 papers
NM_017763.6
p.Y332*
c.996C>G
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