Varaico: Literature-Extracted Genetic Variants

Gene:RSPO4
Variant:p.R81C

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.R81C
c.241C>T
Surrounding Variants
1 paper
NM_001029871.4
p.R81R
c.243C>T
1 paper
NM_001029871.4
p.G82R
c.244G>C
1 paper
NM_001029871.4
p.G79D
c.236G>A
1 paper
NM_001029871.4
p.E84Q
c.250G>C
1 paper
NM_001029871.4
p.V85A
c.254T>C
6 papers
NM_001029871.4
p.C73Y
c.218G>A
1 paper
NM_001029871.4
p.K89N
c.267A>T
2 papers
NM_001029871.4
p.K90insFs
c.268dupA
3 papers
NM_001029871.4
p.G67R
c.199G>C
1 paper
NM_001029871.4
p.Q65H
c.195G>T
1 paper
NM_001029871.4
p.Q65H
c.195G>C
7 papers
NM_001029871.4
p.Q65R
c.194A>G
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