Varaico: Literature-Extracted Genetic Variants

Gene:RSPO3
Variant:p.L55F

RSPO3

55 papers

RefSeq Summary

This gene belongs to the R-spondin family. The encoded protein plays a role in the regulation of Wnt (wingless-type MMTV integration site family)/beta-catenin and Wnt/planar cell polarity (PCP) signal...

Pfam Domains

Furin-like_2aa 41–142UCSCFurin-like repeat, cysteine-rich
TSP1_spondinaa 148–206UCSCSpondin-like TSP1 domain

Gene Aliases

HGNC Name

R-spondin 3

HGNC Previous Symbol

THSD2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_032784.5
p.L55F
c.165G>C
Surrounding Variants
1 paper
NM_032784.5
p.L55F
c.165G>T
1 paper
NM_032784.5
p.S49L
c.146C>T
1 paper
NM_032784.5
p.V37I
c.109G>A
1 paper
NM_032784.5
p.M33Splc
c.98-1G>A
1 paper
NM_032784.5
p.G83E
c.248G>A
1 paper
NM_032784.5
p.I92K
c.275T>A
1 paper
NM_032784.5
p.K97Splc
c.289+51C>A
1 paper
NM_032784.5
p.C98F
c.293G>T
1 paper
NM_032784.5
p.C105S
c.313T>A
1 paper
NM_032784.5
p.C105S
c.314G>C
1 paper
NM_032784.5
p.K108T
c.323A>C
2 papers
NM_032784.5
p.F110I
c.328T>A
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