Varaico: Literature-Extracted Genetic Variants

Gene:RSPO4
Variant:p.Q101Q

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
1 paper
NM_001029871.4
p.Q101Q
c.303G>A
Surrounding Variants
1 paper
NM_001029871.4
p.D102N
c.304G>A
3 papers
NM_001029871.4
p.Q101*
c.301C>T
1 paper
NM_001029871.4
p.F99S
c.296T>C
1 paper
NM_001029871.4
p.R106Q
c.317G>A
6 papers
NM_001029871.4
p.C107R
c.319T>C
5 papers
NM_001029871.4
p.C95F
c.284G>T
1 paper
NM_001029871.4
p.K108N
c.324G>T
1 paper
NM_001029871.4
p.K108N
c.324G>C
1 paper
NM_001029871.4
p.C91_G92del1
c.273_275delCCA
1 paper
NM_001029871.4
p.C95_Q110del16
c.283_329del48
4 papers
NM_001029871.4
p.G92_A93insG
c.274_278ins3
1 paper
NM_001029871.4
p.C91fs
c.271_272fs
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