Varaico: Literature-Extracted Genetic Variants

Gene:RSPO3
Variant:p.E239*

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.E239*
c.715G>T
Surrounding Variants
1 paper
NM_032784.5
p.S235R
c.705C>A
1 paper
NM_032784.5
p.S235R
c.705C>G
1 paper
NM_032784.5
p.S235R
c.703A>C
1 paper
NM_032784.5
p.P245S
c.733C>T
2 papers
NM_032784.5
p.R248Q
c.743G>A
2 papers
NM_032784.5
p.S265L
c.794C>T
1 paper
NM_032784.5
p.V266A
c.797T>C
1 paper
NM_032784.5
p.S267S
c.801A>G
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