Varaico: Literature-Extracted Genetic Variants

Gene:RNF43
Variant:p.I48N

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.I48N
c.143T>A
Surrounding Variants
2 papers
NM_017763.6
p.I48S
c.143T>G
8 papers
NM_017763.6
p.I48T
c.143T>C
1 paper
NM_017763.6
p.A46_I48delFs
c.136_142del7
1 paper
NM_017763.6
p.I47fs
c.139_140fs
1 paper
NM_017763.6
p.R49G
c.145A>G
3 papers
NM_017763.6
p.R49fs
c.145_146fs
1 paper
NM_017763.6
p.I47_R49Fs
c.139_145delinsGTGFs
1 paper
NM_017763.6
p.I47insFs
c.139dupA
1 paper
NM_017763.6
p.I47N
c.140T>A
1 paper
NM_017763.6
p.I47delFs
c.139delT
1 paper
NM_017763.6
p.I47delins
c.139_140delinsGG
2 papers
NM_017763.6
p.I47fs
c.139_140fs
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