Varaico: Literature-Extracted Genetic Variants

Gene:RNF43
Variant:p.P354P

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.P354P
c.1062T>A
Surrounding Variants
1 paper
NM_017763.6
p.L353delFs
c.1057delG
1 paper
NM_017763.6
p.G347_A356del10
c.1039_1067del30
1 paper
NM_017763.6
p.Y357fs
c.1069_1070fs
1 paper
NM_017763.6
p.H352insFs
c.1054_1055insC
1 paper
NM_017763.6
p.Y357C
c.1070A>G
1 paper
NM_017763.6
p.L358P
c.1073T>C
1 paper
NM_017763.6
p.A349V
c.1046C>T
1 paper
NM_017763.6
p.G360fs
c.1078_1079fs
1 paper
NM_017763.6
p.A349_H350insCC
c.1045_1049ins6
1 paper
NM_017763.6
p.G360delFs
c.1079delC
1 paper
NM_017763.6
p.H348L
c.1043A>T
1 paper
NM_017763.6
p.G347fs
c.1039_1040fs
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