Varaico: Literature-Extracted Genetic Variants

Gene:RNF43
Variant:p.R554L

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.R554L
c.1661G>T
Surrounding Variants
1 paper
NM_017763.6
p.R554Q
c.1661G>A
2 papers
NM_017763.6
p.R554W
c.1660C>T
2 papers
NM_017763.6
p.R554G
c.1660C>G
1 paper
NM_017763.6
p.R552H
c.1655G>A
2 papers
NM_017763.6
p.R552C
c.1654C>T
1 paper
NM_017763.6
p.K559Q
c.1675A>C
3 papers
NM_017763.6
p.H549N
c.1645C>A
1 paper
NM_017763.6
p.K560fs
c.1678_1679fs
2 papers
NM_017763.6
p.R561Q
c.1682G>A
1 paper
NM_017763.6
p.H547R
c.1640A>G
1 paper
NM_017763.6
p.S546G
c.1636A>G
1 paper
NM_017763.6
p.S545delFs
c.1633delA
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