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

1 paper

NM_198239.2

p.I347delFs

c.1039delA

Surrounding Variants

1 paper

NM_198239.2

p.R342_E343del2

c.1024_1028del6

6 papers

NM_198239.2

p.Q338L

c.1013A>T

1 paper

NM_198239.2

p.Q338*

c.1012C>T

2 papers

NM_198239.2

p.Q338fs

c.1012_1013fs

18 papers

NM_198239.2

p.C337Y

c.1010G>A

1 paper

NM_198239.2

p.C337fs

c.1009_1010fs

6 papers

NM_198239.2

p.C335Y

c.1004G>A

2 papers

NM_198239.2

p.C337insFs

c.1010_1011dupGT

2 papers

NM_198239.2

p.V336_C337delFs

c.1008_1011del4

15 papers

NM_198239.2

p.S334P

c.1000T>C

9 papers

NM_198239.2

p.W331*

c.993G>A

8 papers

NM_198239.2

p.W331*

c.992G>A