Varaico: Literature-Extracted Genetic Variants

Gene:RSPO1

RSPO1

101 papers

RefSeq Summary

This gene encodes a secreted activator protein with two cysteine-rich, furin-like domains and one thrombospondin type 1 domain. The encoded protein is a ligand for leucine-rich repeat-containing G-pro...

Pfam Domains

Furin-like_2aa 40–142UCSCFurin-like repeat, cysteine-rich

Gene Aliases

HGNC Name

R-spondin 1

HGNC Alias Symbols

FLJ40906; RSPONDIN

Papers
RefSeq ID
Protein change
DNA change
1–12 of 153 variants
4 papers
NM_001242908.2
p.R31W
c.91C>T
3 papers
NM_001242908.2
p.Q71R
c.212A>G
3 papers
NM_001242908.2
p.P77L
c.230C>T
3 papers
NM_001242908.2
p.K96Splc
c.286+1G>A
3 papers
NM_001242908.2
p.G123A
c.368G>C
2 papers
NM_001242908.2
p.R22Q
c.65G>A
2 papers
NM_001242908.2
p.G23R
c.67G>C
2 papers
NM_001242908.2
p.G23R
c.67G>A
2 papers
NM_001242908.2
p.R31Q
c.92G>A
2 papers
NM_001242908.2
p.R66W
c.196A>T
2 papers
NM_001242908.2
p.R70C
c.208C>T
2 papers
NM_001242908.2
p.G73R
c.217G>C
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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."