Varaico: Literature-Extracted Genetic Variants

Gene:RNF43
Variant:p.V480F

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.V480F
c.1438G>T
Surrounding Variants
1 paper
NM_017763.6
p.V479delFs
c.1436_1437delCA
1 paper
NM_017763.6
p.V479del1
c.1435_1436delCAC
1 paper
NM_017763.6
p.V479L
c.1435G>T
1 paper
NM_017763.6
p.V479L
c.1435G>C
1 paper
NM_017763.6
p.V479fs
c.1435_1436fs
1 paper
NM_017763.6
p.N481fs
c.1441_1442fs
1 paper
NM_017763.6
p.V480delFs
c.1440delG
1 paper
NM_017763.6
p.S478A
c.1432T>G
2 papers
NM_017763.6
p.S478P
c.1432T>C
1 paper
NM_017763.6
p.S476del1
c.1426_1427delACT
1 paper
NM_017763.6
p.T483M
c.1448C>T
1 paper
NM_017763.6
p.T483T
c.1449G>A
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