Varaico: Literature-Extracted Genetic Variants

Gene:RNF43
Variant:p.R650delFs

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.R650delFs
c.1948delG
Surrounding Variants
3 papers
NM_017763.6
p.R650*
c.1948C>T
1 paper
NM_017763.6
p.R650fs
c.1948_1949fs
1 paper
NM_017763.6
p.A649T
c.1945G>A
1 paper
NM_017763.6
p.S648delFs
c.1943_1944delAG
1 paper
NM_017763.6
p.S648C
c.1943C>G
1 paper
NM_017763.6
p.P652Q
c.1955C>A
1 paper
NM_017763.6
p.S648fs
c.1942_1943fs
1 paper
NM_017763.6
p.L647fs
c.1939_1940fs
1 paper
NM_017763.6
p.Q653K
c.1957C>A
1 paper
NM_017763.6
p.S646R
c.1938C>G
1 paper
NM_017763.6
p.S646R
c.1938C>A
1 paper
NM_017763.6
p.R654fs
c.1960_1961fs
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