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

2 papers

NM_002514.4

p.R118H

c.353G>A

Surrounding Variants

1 paper

NM_002514.4

p.Y117H

c.349T>C

1 paper

NM_002514.4

p.V115D

c.344T>A

1 paper

NM_002514.4

p.Q124*

c.370C>T

1 paper

NM_002514.4

p.N154D

c.460A>G

1 paper

NM_002514.4

p.P175T

c.523C>A

1 paper

NM_002514.4

p.D179A

c.536A>C

1 paper

NM_002514.4

p.G182R

c.544G>A

1 paper

NM_002514.4

p.G182R

c.544G>C

1 paper

NM_002514.4

p.A104Splc

c.310+214T>C

1 paper

NM_002514.4

p.V197I

c.589G>A

1 paper

NM_002514.4

p.S202L

c.605C>T

1 paper

NM_002514.4

p.M222_T226del5

c.664_677del15