Varaico: Literature-Extracted Genetic Variants

TNC

529 papers

RefSeq Summary

This gene encodes an extracellular matrix protein with a spatially and temporally restricted tissue distribution. This protein is homohexameric with disulfide-linked subunits, and contains multiple EG...

Pfam Domains

EGF_Teneurinaa 190–219UCSCTeneurin-like EGF domain

EGF_TENaa 286–510UCSCTeneurin EGF domain

EGF_TENaa 503–647UCSCTeneurin EGF domain

fn3aa 624–709UCSCFibronectin type III domain

fn3aa 713–802UCSCFibronectin type III domain

fn3aa 804–891UCSCFibronectin type III domain

Gene Aliases

HGNC Name

tenascin C

HGNC Previous Symbols

HXB; DFNA56

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002160.4

p.G304S

c.910G>A

Surrounding Variants

1 paper

NM_002160.4

p.T306M

c.917C>T

1 paper

NM_002160.4

p.G307C

c.919G>T

2 papers

NM_002160.4

p.G307insFs

c.920_921insT

1 paper

NM_002160.4

p.V300V

c.900G>A

1 paper

NM_002160.4

p.S311C

c.931A>T

1 paper

NM_002160.4

p.E312A

c.935A>C

2 papers

NM_002160.4

p.V295M

c.883G>A

1 paper

NM_002160.4

p.C294C

c.882C>T

1 paper

NM_002160.4

p.G292R

c.874G>A

1 paper

NM_002160.4

p.D321H

c.961G>C

1 paper

NM_002160.4

p.R322W

c.964C>T

4 papers

NM_002160.4

p.R322Q

c.965G>A