Varaico: Literature-Extracted Genetic Variants

CCN5

28 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 26–78UCSCInsulin-like growth factor binding protein

VWCaa 100–163UCSCvon Willebrand factor type C domain

TSP1_CCNaa 194–237UCSCCCN3 Nov like TSP1 domain

Gene Aliases

HGNC Name

cellular communication network factor 5

HGNC Previous Symbol

WISP2

Papers

RefSeq ID

Protein change

DNA change

1–12 of 29 variants

2 papers

NM_003881.4

p.R59Q

c.176G>A

1 paper

NM_003881.4

p.M1V

c.1A>G

1 paper

NM_003881.4

p.A11T

c.31G>A

1 paper

NM_003881.4

p.L15F

c.43C>T

1 paper

NM_003881.4

p.R22H

c.65G>A

1 paper

NM_003881.4

p.P33fs

c.97_98fs

1 paper

NM_003881.4

p.P33insFs

c.98_99insTG

1 paper

NM_003881.4

p.P33R

c.98C>G

1 paper

NM_003881.4

p.P33L

c.98C>T

1 paper

NM_003881.4

p.W34*

c.101G>A

1 paper

NM_003881.4

p.P37R

c.110C>G

1 paper

NM_003881.4

p.C52*

c.156C>A