Varaico: Literature-Extracted Genetic Variants

Gene:RSPO3

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
1–12 of 41 variants
3 papers
NM_032784.5
p.R175Q
c.524G>A
2 papers
NM_032784.5
p.F110I
c.328T>A
2 papers
NM_032784.5
p.G187C
c.559G>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.M1K
c.2T>A
1 paper
NM_032784.5
p.R26Q
c.77G>A
1 paper
NM_032784.5
p.M33Splc
c.98-8343T>C
1 paper
NM_032784.5
p.M33Splc
c.98-1G>A
1 paper
NM_032784.5
p.V37I
c.109G>A
1 paper
NM_032784.5
p.S49L
c.146C>T
1 paper
NM_032784.5
p.L55F
c.165G>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."