Varaico: Literature-Extracted Genetic Variants

Gene:RNF43
Variant:p.K108E

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
3 papers
NM_017763.6
p.K108E
c.322A>G
Surrounding Variants
7 papers
NM_017763.6
p.V107I
c.319G>A
1 paper
NM_017763.6
p.E110*
c.328G>T
1 paper
NM_017763.6
p.E110delFs
c.328delC
1 paper
NM_017763.6
p.E110fs
c.328_329fs
1 paper
NM_017763.6
p.S105C
c.313A>T
1 paper
NM_017763.6
p.I104I
c.312C>A
1 paper
NM_017763.6
p.L99_F103del5
c.295_308del15
28 papers
NM_017763.6
p.R113*
c.337C>T
1 paper
NM_017763.6
p.R113Q
c.338G>A
1 paper
NM_017763.6
p.R113delins
c.337_338delinsTC
1 paper
NM_017763.6
p.G102E
c.305G>A
1 paper
NM_017763.6
p.R113fs
c.337_338fs
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