Varaico: Literature-Extracted Genetic Variants

Gene:CCN2
Variant:p.L67P

CCN2

187 papers

RefSeq Summary

The protein encoded by this gene is a mitogen that is secreted by vascular endothelial cells. The encoded protein plays a role in chondrocyte proliferation and differentiation, cell adhesion in many c...

Pfam Domains

IGFBPaa 29–82UCSCInsulin-like growth factor binding protein
VWCaa 103–166UCSCvon Willebrand factor type C domain
TSP1_CCNaa 199–242UCSCCCN3 Nov like TSP1 domain
Cys_knotaa 253–346UCSCCystine-knot domain

Gene Aliases

HGNC Name

cellular communication network factor 2

HGNC Previous Symbol

CTGF

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001901.4
p.L67P
c.200T>C
Surrounding Variants
1 paper
NM_001901.4
p.C68S
c.202T>A
1 paper
NM_001901.4
p.C68S
c.203G>C
1 paper
NM_001901.4
p.G65V
c.194G>T
1 paper
NM_001901.4
p.E70insFs
c.208_209insA
1 paper
NM_001901.4
p.E70K
c.208G>A
1 paper
NM_001901.4
p.L64P
c.191T>C
1 paper
NM_001901.4
p.P73P
c.219A>C
1 paper
NM_001901.4
p.P76T
c.226C>A
1 paper
NM_001901.4
p.R58C
c.172C>T
3 papers
NM_001901.4
p.R58G
c.172C>G
1 paper
NM_001901.4
p.H77_K78ins7
c.231_232ins21
1 paper
NM_001901.4
p.L80L
c.240A>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."