Varaico: Literature-Extracted Genetic Variants

Gene:CCN6
Variant:p.C54fs

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.C54fs
c.160_161fs
Surrounding Variants
1 paper
NM_198239.2
p.C54delFs
c.161delG
31 papers
NM_198239.2
p.C52*
c.156C>A
1 paper
NM_198239.2
p.Q56*
c.166C>T
15 papers
NM_198239.2
p.Q56H
c.168G>C
15 papers
NM_198239.2
p.Q56H
c.168G>T
1 paper
NM_198239.2
p.W50*
c.150G>A
1 paper
NM_198239.2
p.W50*
c.149G>A
3 papers
NM_198239.2
p.H49N
c.145C>A
1 paper
NM_198239.2
p.R60C
c.178C>T
5 papers
NM_198239.2
p.C61F
c.182G>T
6 papers
NM_198239.2
p.P62delFs
c.185delC
1 paper
NM_198239.2
p.P62fs
c.184_185fs
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."