Varaico: Literature-Extracted Genetic Variants

Gene:RSPO2
Variant:p.L119S

RSPO2

88 papers

RefSeq Summary

This gene encodes a member of the R-spondin family of proteins. These proteins are secreted ligands of leucine-rich repeat containing G protein-coupled receptors that enhance Wnt signaling through the...

Pfam Domains

Furin-like_2aa 40–141UCSCFurin-like repeat, cysteine-rich

Gene Aliases

HGNC Name

R-spondin 2

HGNC Alias Symbol

MGC35555

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_178565.5
p.L119S
c.356T>C
Surrounding Variants
1 paper
NM_178565.5
p.R123C
c.367C>T
1 paper
NM_178565.5
p.T111I
c.332C>T
1 paper
NM_178565.5
p.K107N
c.321A>T
1 paper
NM_178565.5
p.K107N
c.321A>C
1 paper
NM_178565.5
p.K107Q
c.319A>C
1 paper
NM_178565.5
p.A133fs
c.397_398fs
1 paper
NM_178565.5
p.P134fs
c.400_401fs
1 paper
NM_178565.5
p.P134Q
c.401C>A
1 paper
NM_178565.5
p.S103F
c.308C>T
1 paper
NM_178565.5
p.E137*
c.409G>T
1 paper
NM_178565.5
p.C101S
c.302G>C
1 paper
NM_178565.5
p.E137V
c.410A>T
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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."