Varaico: Literature-Extracted Genetic Variants

Gene:CCN2
Variant:p.K232E

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
2 papers
NM_001901.4
p.K232E
c.694A>G
Surrounding Variants
1 paper
NM_001901.4
p.K232R
c.695A>G
1 paper
NM_001901.4
p.K251_K252Splc
c.753+3A>G
1 paper
NM_001901.4
p.A208_C209insFs
c.624_625insA
1 paper
NM_001901.4
p.A208_C209insA
c.622_626ins3
1 paper
NM_001901.4
p.V201I
c.601G>A
1 paper
NM_001901.4
p.A181delFs
c.543delA
1 paper
NM_001901.4
p.Y182H
c.544T>C
1 paper
NM_001901.4
p.K170R
c.509A>G
1 paper
NM_001901.4
p.G158_K159ins6
c.472_476ins18
1 paper
NM_001901.4
p.R153S
c.459G>T
1 paper
NM_001901.4
p.R153S
c.459G>C
1 paper
NM_001901.4
p.R152W
c.454A>T
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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."