Varaico: Literature-Extracted Genetic Variants

Gene:RSPO4
Variant:p.I58L

RSPO4

63 papers

RefSeq Summary

This gene encodes a member of the R-spondin family of proteins that share a common domain organization consisting of a signal peptide, cysteine-rich/furin-like domain, thrombospondin domain and a C-te...

Pfam Domains

Furin-like_2aa 35–135UCSCFurin-like repeat, cysteine-rich

Gene Aliases

HGNC Name

R-spondin 4

HGNC Previous Symbol

C20orf182

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001029871.4
p.I58L
c.172A>C
Surrounding Variants
3 papers
NM_001029871.4
p.R60W
c.178C>T
1 paper
NM_001029871.4
p.F55delins
c.164_165delinsAA
1 paper
NM_001029871.4
p.L54H
c.161T>A
1 paper
NM_001029871.4
p.I63N
c.188T>A
1 paper
NM_001029871.4
p.I63M
c.189C>G
5 papers
NM_001029871.4
p.R64C
c.190C>T
1 paper
NM_001029871.4
p.R64H
c.191G>A
7 papers
NM_001029871.4
p.Q65R
c.194A>G
1 paper
NM_001029871.4
p.Q65H
c.195G>T
1 paper
NM_001029871.4
p.Q65H
c.195G>C
3 papers
NM_001029871.4
p.G67R
c.199G>C
1 paper
NM_001029871.4
p.G46D
c.137G>A
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