Varaico: Literature-Extracted Genetic Variants

Gene:RSPO3
Variant:p.G212Splc

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.G212Splc
c.634+4491A>G
Surrounding Variants
1 paper
NM_032784.5
p.G212Splc
c.634+6036A>G
1 paper
NM_032784.5
p.K198E
c.592A>G
1 paper
NM_032784.5
p.L189L
c.567G>A
2 papers
NM_032784.5
p.G187C
c.559G>T
1 paper
NM_032784.5
p.I179T
c.536T>C
1 paper
NM_032784.5
p.R177Q
c.530G>A
3 papers
NM_032784.5
p.R175Q
c.524G>A
1 paper
NM_032784.5
p.R175W
c.523C>T
1 paper
NM_032784.5
p.T165A
c.493A>G
1 paper
NM_032784.5
p.P155L
c.464C>T
1 paper
NM_032784.5
p.S151G
c.451A>G
1 paper
NM_032784.5
p.V150I
c.448G>A
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