Varaico: Literature-Extracted Genetic Variants

Gene:RNF43
Variant:p.A93T

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.A93T
c.277G>A
Surrounding Variants
1 paper
NM_017763.6
p.N92insFs
c.275dupA
1 paper
NM_017763.6
p.N92fs
c.274_275fs
1 paper
NM_017763.6
p.S94I
c.281G>T
1 paper
NM_017763.6
p.S94N
c.281G>A
1 paper
NM_017763.6
p.S94fs
c.280_281fs
1 paper
NM_017763.6
p.S94delFs
c.281delC
1 paper
NM_017763.6
p.C91Y
c.272G>A
1 paper
NM_017763.6
p.S94delFs
c.281_282delAC
3 papers
NM_017763.6
p.L90L
c.268C>T
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.D96D
c.288C>T
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