Varaico: Literature-Extracted Genetic Variants

Gene:RNF43
Variant:p.G469del1

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.G469del1
c.1405_1406delCCC
Surrounding Variants
1 paper
NM_017763.6
p.S466_G469del4
c.1396_1406del12
1 paper
NM_017763.6
p.Y457_G469del13
c.1369_1406del39
3 papers
NM_017763.6
p.G469A
c.1406G>C
2 papers
NM_017763.6
p.G469R
c.1405G>C
2 papers
NM_017763.6
p.G469R
c.1405G>A
1 paper
NM_017763.6
p.C471*
c.1413T>A
1 paper
NM_017763.6
p.S468L
c.1403C>T
1 paper
NM_017763.6
p.S468*
c.1403C>G
1 paper
NM_017763.6
p.H472Y
c.1414C>T
1 paper
NM_017763.6
p.H472fs
c.1414_1415fs
1 paper
NM_017763.6
p.S464_S466delFs
c.1390_1397del8
1 paper
NM_017763.6
p.G473delFs
c.1418delC
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