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

5 papers

NM_198239.2

p.Q316_F317delFs

c.947_951del5

Surrounding Variants

4 papers

NM_198239.2

p.Q316fs

c.946_947fs

1 paper

NM_198239.2

p.S310Fs

c.930delinsACFs

1 paper

NM_198239.2

p.S324T

c.970T>A

1 paper

NM_198239.2

p.N308delFs

c.922_923delAA

1 paper

NM_198239.2

p.P307insFs

c.919_920insA

1 paper

NM_198239.2

p.C305fs

c.913_914fs

1 paper

NM_198239.2

p.C305delFs

c.914_915delGT

1 paper

NM_198239.2

p.D301E

c.903T>A

1 paper

NM_198239.2

p.D301E

c.903T>G

8 papers

NM_198239.2

p.W331*

c.992G>A

9 papers

NM_198239.2

p.W331*

c.993G>A

15 papers

NM_198239.2

p.S334P

c.1000T>C