Varaico: Literature-Extracted Genetic Variants

CCN3

75 papers

RefSeq Summary

The protein encoded by this gene is a small secreted cysteine-rich protein and a member of the CCN family of regulatory proteins. CNN family proteins associate with the extracellular matrix and play a...

Pfam Domains

IGFBPaa 35–89UCSCInsulin-like growth factor binding protein

VWCaa 110–173UCSCvon Willebrand factor type C domain

TSP1_CCNaa 206–249UCSCCCN3 Nov like TSP1 domain

Cys_knotaa 261–353UCSCCystine-knot domain

Gene Aliases

HGNC Name

cellular communication network factor 3

HGNC Previous Symbol

NOV

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002514.4

p.Q98L

c.293A>T

Surrounding Variants

1 paper

NM_002514.4

p.R91S

c.271C>A

3 papers

NM_002514.4

p.D82G

c.245A>G

1 paper

NM_002514.4

p.E73K

c.217G>A

1 paper

NM_002514.4

p.E73Q

c.217G>C

1 paper

NM_002514.4

p.A68V

c.203C>T

1 paper

NM_002514.4

p.G60S

c.178G>A

2 papers

NM_002514.4

p.P52P

c.156C>A

4 papers

NM_002514.4

p.R42Q

c.125G>A

1 paper

NM_002514.4

p.R42G

c.124C>G

1 paper

NM_002514.4

p.A104Splc

c.310+214T>C

1 paper

NM_002514.4

p.Q28Q

c.84G>A

1 paper

NM_002514.4

p.H24R

c.71A>G