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.N280K

c.840C>G

Surrounding Variants

1 paper

NM_002160.4

p.N280K

c.840C>A

1 paper

NM_002160.4

p.K281R

c.842A>G

1 paper

NM_002160.4

p.D278G

c.833A>G

2 papers

NM_002160.4

p.G276C

c.826G>T

1 paper

NM_002160.4

p.F274C

c.821T>G

1 paper

NM_002160.4

p.G292R

c.874G>A

1 paper

NM_002160.4

p.C294C

c.882C>T

2 papers

NM_002160.4

p.V295M

c.883G>A

1 paper

NM_002160.4

p.D265Y

c.793G>T

1 paper

NM_002160.4

p.D265N

c.793G>A

1 paper

NM_002160.4

p.C263W

c.789T>G

1 paper

NM_002160.4

p.G261S

c.781G>A