Varaico: Literature-Extracted Genetic Variants

Gene:RNF43
Variant:p.S535L

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
3 papers
NM_017763.6
p.S535L
c.1604C>T
Surrounding Variants
1 paper
NM_017763.6
p.V536M
c.1606G>A
1 paper
NM_017763.6
p.S532F
c.1595C>T
1 paper
NM_017763.6
p.P538H
c.1613C>A
2 papers
NM_017763.6
p.E541K
c.1621G>A
3 papers
NM_017763.6
p.R529W
c.1585C>T
1 paper
NM_017763.6
p.T542fs
c.1624_1625fs
1 paper
NM_017763.6
p.Q543*
c.1627C>T
1 paper
NM_017763.6
p.V526fs
c.1576_1577fs
1 paper
NM_017763.6
p.V526M
c.1576G>A
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.S545delFs
c.1633delA
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