Varaico: Literature-Extracted Genetic Variants

Gene:RSPO1
Variant:p.S33N

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
1 paper
NM_001242908.2
p.S33N
c.98G>A
Surrounding Variants
1 paper
NM_001242908.2
p.S33R
c.99T>G
1 paper
NM_001242908.2
p.S33R
c.99T>A
1 paper
NM_001242908.2
p.S33C
c.97A>T
1 paper
NM_001242908.2
p.S33R
c.97A>C
1 paper
NM_001242908.2
p.E35*
c.103G>T
1 paper
NM_001242908.2
p.S37fs
c.109_110fs
1 paper
NM_001242908.2
p.G36_S37insFs
c.108_109insG
1 paper
NM_001242908.2
p.I32Splc
c.95-11C>T
1 paper
NM_001242908.2
p.A39P
c.115G>C
1 paper
NM_001242908.2
p.A39T
c.115G>A
1 paper
NM_001242908.2
p.C44Y
c.131G>A
1 paper
NM_001242908.2
p.C47W
c.141C>G
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."