Varaico: Literature-Extracted Genetic Variants

Gene:RNF43
Variant:p.L61delFs

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
4 papers
NM_017763.6
p.L61delFs
c.182_183delCA
Surrounding Variants
2 papers
NM_017763.6
p.L61fs
c.181_182fs
1 paper
NM_017763.6
p.L61L
c.183G>A
2 papers
NM_017763.6
p.L61fs
c.181_182fs
2 papers
NM_017763.6
p.L63F
c.187C>T
1 paper
NM_017763.6
p.K60fs
c.178_179fs
1 paper
NM_017763.6
p.T64P
c.190A>C
1 paper
NM_017763.6
p.N62_L63delFs
c.186_187delGA
1 paper
NM_017763.6
p.T64N
c.191C>A
1 paper
NM_017763.6
p.L63_T64del0
c.187_192del6
1 paper
NM_017763.6
p.G59*
c.175G>T
1 paper
NM_017763.6
p.L65fs
c.193_194fs
1 paper
NM_017763.6
p.L65F
c.195G>T
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