Varaico: Literature-Extracted Genetic Variants

Gene:RNF43
Variant:p.A42Fs

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.A42Fs
c.125delinsTTFs
Surrounding Variants
1 paper
NM_017763.6
p.R40_A42insFs
c.120_124dup5
1 paper
NM_017763.6
p.A42T
c.124G>A
1 paper
NM_017763.6
p.A42fs
c.124_125fs
1 paper
NM_017763.6
p.A42fs
c.124_125fs
2 papers
NM_017763.6
p.E43*
c.127G>T
3 papers
NM_017763.6
p.S41delFs
c.122delG
1 paper
NM_017763.6
p.E43fs
c.127_128fs
8 papers
NM_017763.6
p.S41*
c.122C>G
8 papers
NM_017763.6
p.S41*
c.122C>A
1 paper
NM_017763.6
p.E43delFs
c.127delC
1 paper
NM_017763.6
p.S41T
c.121T>A
1 paper
NM_017763.6
p.A42_E43delFs
c.124_128del5
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