Varaico: Literature-Extracted Genetic Variants

CCN4

59 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 49–101UCSCInsulin-like growth factor binding protein

VWCaa 123–185UCSCvon Willebrand factor type C domain

TSP1_CCNaa 216–259UCSCCCN3 Nov like TSP1 domain

Gene Aliases

HGNC Name

cellular communication network factor 4

HGNC Previous Symbols

WISP1-OT1; WISP1-UT1; WISP1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_003882.4

p.V118L

c.352G>T

Surrounding Variants

1 paper

NM_003882.4

p.G127E

c.380G>A

1 paper

NM_003882.4

p.R129H

c.386G>A

1 paper

NM_003882.4

p.Q134*

c.400C>T

2 papers

NM_003882.4

p.T145M

c.434C>T

1 paper

NM_003882.4

p.C146F

c.437G>T

1 paper

NM_003882.4

p.G149D

c.446G>A

1 paper

NM_003882.4

p.T154T

c.462A>T

1 paper

NM_003882.4

p.R161fs

c.481_482fs

1 paper

NM_003882.4

p.R161insFs

c.483dupC

1 paper

NM_003882.4

p.R171Q

c.512G>A

1 paper

NM_003882.4

p.R172R

c.516C>A

5 papers

NM_003882.4

p.V184I

c.550G>A