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.C100delFs

c.300delT

Surrounding Variants

7 papers

NM_198239.2

p.C100S

c.299G>C

7 papers

NM_198239.2

p.C100S

c.298T>A

6 papers

NM_198239.2

p.Y99F

c.296A>T

1 paper

NM_198239.2

p.Y99_C100delins

c.296_298delinsTTA

1 paper

NM_198239.2

p.L98P

c.293T>C

1 paper

NM_198239.2

p.V104L

c.310G>C

1 paper

NM_198239.2

p.R108_Y116delFs

c.324_346del23

1 paper

NM_198239.2

p.Y109fs

c.325_326fs

7 papers

NM_198239.2

p.Y109*

c.327C>A

5 papers

NM_198239.2

p.Y109*

c.327C>G

3 papers

NM_198239.2

p.L91fs

c.271_272fs

3 papers

NM_198239.2

p.L91delFs

c.271delC