Varaico: Literature-Extracted Genetic Variants

Gene:RSPO4
Variant:p.L31insFs

RSPO4

63 papers

RefSeq Summary

This gene encodes a member of the R-spondin family of proteins that share a common domain organization consisting of a signal peptide, cysteine-rich/furin-like domain, thrombospondin domain and a C-te...

Pfam Domains

Furin-like_2aa 35–135UCSCFurin-like repeat, cysteine-rich

Gene Aliases

HGNC Name

R-spondin 4

HGNC Previous Symbol

C20orf182

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_001029871.4
p.L31insFs
c.92_93insG
Surrounding Variants
1 paper
NM_001029871.4
p.L31fs
c.91_92fs
3 papers
NM_001029871.4
p.G33insFs
c.98dupG
4 papers
NM_001029871.4
p.V27Splc
c.80-1G>A
1 paper
NM_001029871.4
p.G32_G37delFs
c.95_110del16
1 paper
NM_001029871.4
p.I39N
c.116T>A
1 paper
NM_001029871.4
p.G46D
c.137G>A
1 paper
NM_001029871.4
p.L54H
c.161T>A
1 paper
NM_001029871.4
p.F55delins
c.164_165delinsAA
1 paper
NM_001029871.4
p.I58L
c.172A>C
3 papers
NM_001029871.4
p.R60W
c.178C>T
1 paper
NM_001029871.4
p.I63N
c.188T>A
1 paper
NM_001029871.4
p.I63M
c.189C>G
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