Varaico: Literature-Extracted Genetic Variants

Gene:RNF43
Variant:p.P87A

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.P87A
c.259C>G
Surrounding Variants
2 papers
NM_017763.6
p.P87L
c.260C>T
1 paper
NM_017763.6
p.P87R
c.260C>G
1 paper
NM_017763.6
p.H86fs
c.256_257fs
1 paper
NM_017763.6
p.H86L
c.257A>T
1 paper
NM_017763.6
p.S85S
c.255C>T
1 paper
NM_017763.6
p.S85F
c.254C>T
1 paper
NM_017763.6
p.Y89C
c.266A>G
2 papers
NM_017763.6
p.Y89*
c.267C>G
2 papers
NM_017763.6
p.Y89*
c.267C>A
2 papers
NM_017763.6
p.Q84_S85Splc
c.253-2A>T
3 papers
NM_017763.6
p.L90L
c.268C>T
1 paper
NM_017763.6
p.C91Y
c.272G>A
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