Varaico: Literature-Extracted Genetic Variants

Gene:RSPO1
Variant:p.G117S

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.G117S
c.349G>A
Surrounding Variants
1 paper
NM_001242908.2
p.G117D
c.350G>A
1 paper
NM_001242908.2
p.K115E
c.343A>G
1 paper
NM_001242908.2
p.C114Y
c.341G>A
1 paper
NM_001242908.2
p.L120L
c.358C>T
1 paper
NM_001242908.2
p.T112I
c.335C>T
1 paper
NM_001242908.2
p.C111Y
c.332G>A
3 papers
NM_001242908.2
p.G123A
c.368G>C
1 paper
NM_001242908.2
p.R124H
c.371G>A
1 paper
NM_001242908.2
p.N109S
c.326A>G
1 paper
NM_001242908.2
p.H108_N109insG
c.322_326ins3
1 paper
NM_001242908.2
p.A128V
c.383C>T
1 paper
NM_001242908.2
p.C105S
c.314G>C
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