Varaico: Literature-Extracted Genetic Variants

Gene:RSPO1
Variant:p.I95del1

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.I95del1
c.283_284delGAT
Surrounding Variants
3 papers
NM_001242908.2
p.K96Splc
c.286+1G>A
1 paper
NM_001242908.2
p.K93N
c.279G>T
1 paper
NM_001242908.2
p.K93N
c.279G>C
1 paper
NM_001242908.2
p.D90N
c.268G>A
1 paper
NM_001242908.2
p.P89L
c.266C>T
1 paper
NM_001242908.2
p.A86V
c.257C>T
1 paper
NM_001242908.2
p.K96Splc
c.286+33G>A
1 paper
NM_001242908.2
p.K96Splc
c.286+34C>T
2 papers
NM_001242908.2
p.D85A
c.254A>C
1 paper
NM_001242908.2
p.D85insFs
c.254_255ins4
1 paper
NM_001242908.2
p.F84_D85insFs
c.252_253ins4
1 paper
NM_001242908.2
p.F84F
c.252C>T
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