Varaico: Literature-Extracted Genetic Variants

Gene:RNF43
Variant:p.N98fs

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.N98fs
c.292_293fs
Surrounding Variants
1 paper
NM_017763.6
p.N98insFs
c.292_293insA
1 paper
NM_017763.6
p.N98fs
c.292_293fs
1 paper
NM_017763.6
p.D97D
c.291C>T
1 paper
NM_017763.6
p.E100D
c.300G>C
2 papers
NM_017763.6
p.D96D
c.288C>T
1 paper
NM_017763.6
p.L88_D96del0
c.264_287del24
1 paper
NM_017763.6
p.P101S
c.301C>T
1 paper
NM_017763.6
p.S94delFs
c.281_282delAC
1 paper
NM_017763.6
p.G102E
c.305G>A
1 paper
NM_017763.6
p.S94fs
c.280_281fs
1 paper
NM_017763.6
p.S94delFs
c.281delC
1 paper
NM_017763.6
p.S94I
c.281G>T
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