Varaico: Literature-Extracted Genetic Variants

Gene:CCN4
Variant:p.L25R

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
IGFBPaa 49–101UCSCInsulin-like growth factor binding protein
VWCaa 123–185UCSCvon Willebrand factor type C domain
VWCaa 123–185UCSCvon Willebrand factor type C domain
TSP1_CCNaa 216–259UCSCCCN3 Nov like TSP1 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
1 paper
NM_003882.4
p.L25R
c.74T>G
Surrounding Variants
1 paper
NM_003882.4
p.L25F
c.73C>T
1 paper
NM_003882.4
p.C75R
c.223T>C
1 paper
NM_003882.4
p.C79Y
c.236G>A
1 paper
NM_003882.4
p.G105E
c.314G>A
1 paper
NM_003882.4
p.P108L
c.323C>T
3 papers
NM_003882.4
p.V118L
c.352G>T
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
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