Varaico: Literature-Extracted Genetic Variants

Gene:RNF43
Variant:p.L12fs

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.L12fs
c.34_35fs
Surrounding Variants
2 papers
NM_017763.6
p.L9_L12del0
c.26_34del9
1 paper
NM_017763.6
p.L12R
c.35T>G
1 paper
NM_017763.6
p.W13*
c.38G>A
1 paper
NM_017763.6
p.L12fs
c.34_35fs
2 papers
NM_017763.6
p.W13C
c.39G>T
1 paper
NM_017763.6
p.W13C
c.39G>C
1 paper
NM_017763.6
p.W13*
c.39G>A
1 paper
NM_017763.6
p.A11_L12insFs
c.33_34ins4
1 paper
NM_017763.6
p.Q8_A11delFs
c.23_32del10
1 paper
NM_017763.6
p.P14S
c.40C>T
1 paper
NM_017763.6
p.A11V
c.32C>T
1 paper
NM_017763.6
p.P14T
c.40C>A
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