Varaico: Literature-Extracted Genetic Variants

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

6 papers

NM_198239.2

p.E243_K244delFs

c.727_731del5

Surrounding Variants

7 papers

NM_198239.2

p.K242fs

c.724_725fs

2 papers

NM_198239.2

p.K242_E243delFs

c.725_728del4

6 papers

NM_198239.2

p.K242delFs

c.725_726delAA

1 paper

NM_198239.2

p.E243fs

c.727_728fs

6 papers

NM_198239.2

p.E243fs

c.727_728fs

5 papers

NM_198239.2

p.E243_R245delFs

c.727_733del7

2 papers

NM_198239.2

p.M240fs

c.718_719fs

4 papers

NM_198239.2

p.E239fs

c.715_716fs

7 papers

NM_198239.2

p.E239_R241delFs

c.716_722del7

1 paper

NM_198239.2

p.L246del1

c.736_737delCTG

11 papers

NM_198239.2

p.C247delFs

c.740_741delGT

1 paper

NM_198239.2

p.N237K

c.711C>A