Varaico: Literature-Extracted Genetic Variants

Gene:RSPO4
Variant:p.C6*

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
3 papers
NM_001029871.4
p.C6*
c.18C>A
Surrounding Variants
2 papers
NM_001029871.4
p.A3_C6del0
c.9_17del9
1 paper
NM_001029871.4
p.P4P
c.12A>C
1 paper
NM_001029871.4
p.A3V
c.8C>T
1 paper
NM_001029871.4
p.R2W
c.4C>T
2 papers
NM_001029871.4
p.M1I
c.3G>T
2 papers
NM_001029871.4
p.M1I
c.3G>C
2 papers
NM_001029871.4
p.M1I
c.3G>A
1 paper
NM_001029871.4
p.V15M
c.43G>A
2 papers
NM_001029871.4
p.L9_M17del9
c.25_50del27
1 paper
NM_001029871.4
p.K25R
c.74A>G
12 papers
NM_001029871.4
p.V27Splc
c.79+1G>A
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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."