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

1–12 of 52 variants

4 papers

NM_002514.4

p.R42Q

c.125G>A

3 papers

NM_002514.4

p.D82G

c.245A>G

2 papers

NM_002514.4

p.P52P

c.156C>A

2 papers

NM_002514.4

p.R118H

c.353G>A

2 papers

NM_002514.4

p.R233H

c.698G>A

2 papers

NM_002514.4

p.I328T

c.983T>C

1 paper

NM_002514.4

p.M1ins1

c.2_3insTAT

1 paper

NM_002514.4

p.M1_Q2insTAT

c.1_5ins9

1 paper

NM_002514.4

p.M1ins1

c.1_2insTAT

1 paper

NM_002514.4

p.M1V

c.1A>G

1 paper

NM_002514.4

p.M1I

c.3G>A

1 paper

NM_002514.4

p.S6delFs

c.18delC