Varaico: Literature-Extracted Genetic Variants

Gene:RSPO1
Variant:p.P77L

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
Selected Variant
3 papers
NM_001242908.2
p.P77L
c.230C>T
Surrounding Variants
1 paper
NM_001242908.2
p.P80insFs
c.238_239ins4
2 papers
NM_001242908.2
p.V74I
c.220G>A
1 paper
NM_001242908.2
p.P80_P81insFs
c.240_241ins4
1 paper
NM_001242908.2
p.P81S
c.241C>T
1 paper
NM_001242908.2
p.C75_P80insFs
c.224_240dup17
2 papers
NM_001242908.2
p.G73R
c.217G>C
1 paper
NM_001242908.2
p.P81_G82insFs
c.243_244ins4
1 paper
NM_001242908.2
p.G82E
c.245G>A
1 paper
NM_001242908.2
p.V72M
c.214G>A
3 papers
NM_001242908.2
p.Q71R
c.212A>G
1 paper
NM_001242908.2
p.Q71E
c.211C>G
1 paper
NM_001242908.2
p.F84insFs
c.250_251ins4
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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."