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.C75G

c.223T>G

Surrounding Variants

1 paper

NM_198239.2

p.K76*

c.226A>T

13 papers

NM_198239.2

p.C78R

c.232T>C

13 papers

NM_198239.2

p.C78Y

c.233G>A

1 paper

NM_198239.2

p.C78F

c.233G>T

1 paper

NM_198239.2

p.A79delins

c.236_237delinsAA

1 paper

NM_198239.2

p.K80E

c.238A>G

2 papers

NM_198239.2

p.D70insFs

c.208_209insA

2 papers

NM_198239.2

p.Q81E

c.241C>G

1 paper

NM_198239.2

p.P82fs

c.244_245fs

10 papers

NM_198239.2

p.P82delFs

c.246delA

1 paper

NM_198239.2

p.E84delFs

c.250delG

17 papers

NM_198239.2

p.G83E

c.248G>A