Varaico: Literature-Extracted Genetic Variants

Gene:RSPO1
Variant:p.S57*

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.S57*
c.170C>A
Surrounding Variants
1 paper
NM_001242908.2
p.S57*
c.170C>G
1 paper
NM_001242908.2
p.S57ins3
c.170_171ins9
1 paper
NM_001242908.2
p.C56S
c.167G>C
1 paper
NM_001242908.2
p.C56S
c.166T>A
1 paper
NM_001242908.2
p.K59E
c.175A>G
1 paper
NM_001242908.2
p.K59insFs
c.175dupA
1 paper
NM_001242908.2
p.L60L
c.178C>T
1 paper
NM_001242908.2
p.L54H
c.161T>A
1 paper
NM_001242908.2
p.G52D
c.155G>A
1 paper
NM_001242908.2
p.L63delFs
c.187_188delAG
1 paper
NM_001242908.2
p.E65K
c.193G>A
2 papers
NM_001242908.2
p.R66W
c.196A>T
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