Varaico: Literature-Extracted Genetic Variants

Gene:RNF43
Variant:p.A146G

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.A146G
c.437C>G
Surrounding Variants
4 papers
NM_017763.6
p.A146V
c.437C>T
1 paper
NM_017763.6
p.A146fs
c.436_437fs
4 papers
NM_017763.6
p.A146T
c.436G>A
1 paper
NM_017763.6
p.D144_R145delFs
c.432_435del4
1 paper
NM_017763.6
p.A147P
c.439G>C
1 paper
NM_017763.6
p.R145R
c.435A>T
1 paper
NM_017763.6
p.R145L
c.434G>T
7 papers
NM_017763.6
p.R145Q
c.434G>A
20 papers
NM_017763.6
p.R145*
c.433C>T
1 paper
NM_017763.6
p.D144fs
c.430_431fs
8 papers
NM_017763.6
p.A148G
c.443C>G
2 papers
NM_017763.6
p.E149Q
c.445G>C
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