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.F291L

c.871T>C

Surrounding Variants

1 paper

NM_002514.4

p.R290K

c.869G>A

1 paper

NM_002514.4

p.K288insFs

c.863_864insAC

1 paper

NM_002514.4

p.T302I

c.905C>T

1 paper

NM_002514.4

p.H275Y

c.823C>T

1 paper

NM_002514.4

p.T308I

c.923C>T

1 paper

NM_002514.4

p.L265F

c.793C>T

2 papers

NM_002514.4

p.I328T

c.983T>C

1 paper

NM_002514.4

p.C337Y

c.1010G>A

1 paper

NM_002514.4

p.E347K

c.1039G>A

1 paper

NM_002514.4

p.E254A

c.761A>C

1 paper

NM_002514.4

p.E254K

c.760G>A

1 paper

NM_002514.4

p.R242Q

c.725G>A