Varaico: Literature-Extracted Genetic Variants

Gene:RNF43
Variant:p.S425*

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.S425*
c.1274C>G
Surrounding Variants
1 paper
NM_017763.6
p.S425*
c.1274C>A
1 paper
NM_017763.6
p.Q426*
c.1276C>T
1 paper
NM_017763.6
p.S423F
c.1268C>T
1 paper
NM_017763.6
p.Q422*
c.1264C>T
1 paper
NM_017763.6
p.L421P
c.1262T>C
1 paper
NM_017763.6
p.A429D
c.1286C>A
1 paper
NM_017763.6
p.H420fs
c.1258_1259fs
1 paper
NM_017763.6
p.H410_L418del9
c.1228_1253del27
1 paper
NM_017763.6
p.P432S
c.1294C>T
1 paper
NM_017763.6
p.P432fs
c.1294_1295fs
22 papers
NM_017763.6
p.L418M
c.1252C>A
1 paper
NM_017763.6
p.P432P
c.1296A>T
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