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

3 papers

NM_198239.2

p.G112R

c.334G>C

Surrounding Variants

3 papers

NM_198239.2

p.G112R

c.334G>A

6 papers

NM_198239.2

p.C114_A115delFs

c.342_343delTG

5 papers

NM_198239.2

p.C114R

c.340T>C

7 papers

NM_198239.2

p.Y109*

c.327C>A

5 papers

NM_198239.2

p.Y109*

c.327C>G

10 papers

NM_198239.2

p.C114Y

c.341G>A

14 papers

NM_198239.2

p.C114W

c.342T>G

1 paper

NM_198239.2

p.A115fs

c.343_344fs

5 papers

NM_198239.2

p.A115fs

c.343_344fs

1 paper

NM_198239.2

p.Y109fs

c.325_326fs

1 paper

NM_198239.2

p.R108_Y116delFs

c.324_346del23

1 paper

NM_198239.2

p.Y116Splc

c.346+1G>A