Varaico: Literature-Extracted Genetic Variants

Gene:RSPO4

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
1–12 of 75 variants
12 papers
NM_001029871.4
p.V27Splc
c.79+1G>A
7 papers
NM_001029871.4
p.Q65R
c.194A>G
6 papers
NM_001029871.4
p.C73Y
c.218G>A
6 papers
NM_001029871.4
p.C107R
c.319T>C
6 papers
NM_001029871.4
p.C118Y
c.353G>A
5 papers
NM_001029871.4
p.R64C
c.190C>T
5 papers
NM_001029871.4
p.C95F
c.284G>T
4 papers
NM_001029871.4
p.V27Splc
c.80-1G>A
4 papers
NM_001029871.4
p.L31insFs
c.92_93insG
4 papers
NM_001029871.4
p.G92_A93insG
c.274_278ins3
3 papers
NM_001029871.4
p.C6*
c.18C>A
3 papers
NM_001029871.4
p.G33insFs
c.98dupG
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."