Varaico: Literature-Extracted Genetic Variants

Gene:RNF43
Variant:p.D442E

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.D442E
c.1326C>A
Surrounding Variants
1 paper
NM_017763.6
p.D442E
c.1326C>G
1 paper
NM_017763.6
p.D442N
c.1324G>A
1 paper
NM_017763.6
p.D442_S443delFs
c.1326_1327delTG
3 papers
NM_017763.6
p.P441fs
c.1321_1322fs
1 paper
NM_017763.6
p.P441delFs
c.1322delG
3 papers
NM_017763.6
p.P441fs
c.1321_1322fs
1 paper
NM_017763.6
p.P441insFs
c.1321_1322insA
2 papers
NM_017763.6
p.G445E
c.1334G>A
1 paper
NM_017763.6
p.P440S
c.1318C>T
1 paper
NM_017763.6
p.S446F
c.1337C>T
2 papers
NM_017763.6
p.G447E
c.1340G>A
1 paper
NM_017763.6
p.E448*
c.1342G>T
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