Varaico: Literature-Extracted Genetic Variants

Gene:RNF43
Variant:p.M522L

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.M522L
c.1564A>T
Surrounding Variants
1 paper
NM_017763.6
p.M522L
c.1564A>C
1 paper
NM_017763.6
p.D521G
c.1562A>G
1 paper
NM_017763.6
p.D521N
c.1561G>A
1 paper
NM_017763.6
p.V520fs
c.1558_1559fs
1 paper
NM_017763.6
p.Q523delFs
c.1567delG
1 paper
NM_017763.6
p.Q518_R519del2
c.1552_1556del6
1 paper
NM_017763.6
p.R519insFs
c.1555_1556ins4
10 papers
NM_017763.6
p.R519Q
c.1556G>A
10 papers
NM_017763.6
p.R519*
c.1555C>T
1 paper
NM_017763.6
p.S525N
c.1574G>A
1 paper
NM_017763.6
p.S525delins
c.1573_1574delinsTT
1 paper
NM_017763.6
p.V526M
c.1576G>A
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