Varaico: Literature-Extracted Genetic Variants

Gene:RNF43
Variant:p.R371*

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
23 papers
NM_017763.6
p.R371*
c.1111C>T
Surrounding Variants
1 paper
NM_017763.6
p.R371insFs
c.1111_1112insA
1 paper
NM_017763.6
p.R371L
c.1112G>T
2 papers
NM_017763.6
p.P370fs
c.1108_1109fs
2 papers
NM_017763.6
p.P370delFs
c.1109delG
1 paper
NM_017763.6
p.R371fs
c.1111_1112fs
4 papers
NM_017763.6
p.P372S
c.1114C>T
1 paper
NM_017763.6
p.P370_R371ins10
c.1108_1112ins30
2 papers
NM_017763.6
p.P370fs
c.1108_1109fs
1 paper
NM_017763.6
p.P372H
c.1115C>A
1 paper
NM_017763.6
p.A367_P369delFs
c.1101_1105del5
1 paper
NM_017763.6
p.R368Q
c.1103G>A
1 paper
NM_017763.6
p.R368fs
c.1102_1103fs
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