Varaico: Literature-Extracted Genetic Variants

Gene:RNF43
Variant:p.W15*

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
3 papers
NM_017763.6
p.W15*
c.44G>A
Surrounding Variants
3 papers
NM_017763.6
p.W15*
c.45G>A
1 paper
NM_017763.6
p.W15fs
c.43_44fs
1 paper
NM_017763.6
p.L16fs
c.46_47fs
1 paper
NM_017763.6
p.P14S
c.40C>T
1 paper
NM_017763.6
p.P14T
c.40C>A
1 paper
NM_017763.6
p.P14fs
c.40_41fs
2 papers
NM_017763.6
p.W13C
c.39G>T
1 paper
NM_017763.6
p.W13C
c.39G>C
1 paper
NM_017763.6
p.W13*
c.39G>A
1 paper
NM_017763.6
p.L16delFs
c.48delC
1 paper
NM_017763.6
p.W13*
c.38G>A
1 paper
NM_017763.6
p.L16_L17insFs
c.47_50dup4
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