Varaico: Literature-Extracted Genetic Variants

Gene:CCN6
Variant:p.D301E

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.D301E
c.903T>A
Surrounding Variants
1 paper
NM_198239.2
p.D301E
c.903T>G
1 paper
NM_198239.2
p.C305delFs
c.914_915delGT
1 paper
NM_198239.2
p.C305fs
c.913_914fs
1 paper
NM_198239.2
p.P307insFs
c.919_920insA
2 papers
NM_198239.2
p.C296fs
c.886_887fs
1 paper
NM_198239.2
p.N308delFs
c.922_923delAA
2 papers
NM_198239.2
p.C296insFs
c.886dupT
1 paper
NM_198239.2
p.T294fs
c.880_881fs
2 papers
NM_198239.2
p.P293insFs
c.879dupC
1 paper
NM_198239.2
p.S310Fs
c.930delinsACFs
2 papers
NM_198239.2
p.S290fs
c.868_869fs
11 papers
NM_198239.2
p.S290fs
c.868_869fs
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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."