Varaico: Literature-Extracted Genetic Variants

CCN6

174 papers

RefSeq Summary

This gene encodes a member of the WNT1 inducible signaling pathway (WISP) protein subfamily, which belongs to the connective tissue growth factor (CTGF) family. WNT1 is a member of a family of cystein...

Pfam Domains

IGFBPaa 48–100UCSCInsulin-like growth factor binding protein

TSP1_CCNaa 209–252UCSCCCN3 Nov like TSP1 domain

Cys_knotaa 265–353UCSCCystine-knot domain

Gene Aliases

HGNC Name

cellular communication network factor 6

HGNC Previous Symbol

WISP3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_198239.2

p.R44C

c.130C>T

Surrounding Variants

1 paper

NM_198239.2

p.K45insFs

c.135dupA

12 papers

NM_198239.2

p.Q46*

c.136C>T

1 paper

NM_198239.2

p.Q46fs

c.136_137fs

1 paper

NM_198239.2

p.A41V

c.122C>T

1 paper

NM_198239.2

p.S39*

c.116C>A

1 paper

NM_198239.2

p.S39*

c.116C>G

3 papers

NM_198239.2

p.H49N

c.145C>A

1 paper

NM_198239.2

p.W50*

c.149G>A

1 paper

NM_198239.2

p.W50*

c.150G>A

4 papers

NM_198239.2

p.G36fs

c.106_107fs

2 papers

NM_198239.2

p.G36fs

c.106_107fs

31 papers

NM_198239.2

p.C52*

c.156C>A