Varaico: Literature-Extracted Genetic Variants

Gene:RSPO1
Variant:p.Q71R

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.Q71R
c.212A>G
Surrounding Variants
1 paper
NM_001242908.2
p.Q71E
c.211C>G
1 paper
NM_001242908.2
p.V72M
c.214G>A
2 papers
NM_001242908.2
p.R70C
c.208C>T
2 papers
NM_001242908.2
p.G73R
c.217G>C
2 papers
NM_001242908.2
p.V74I
c.220G>A
1 paper
NM_001242908.2
p.N67K
c.201C>G
1 paper
NM_001242908.2
p.N67K
c.201C>A
1 paper
NM_001242908.2
p.R66S
c.198G>T
1 paper
NM_001242908.2
p.R66S
c.198G>C
2 papers
NM_001242908.2
p.R66W
c.196A>T
3 papers
NM_001242908.2
p.P77L
c.230C>T
1 paper
NM_001242908.2
p.E65K
c.193G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."