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.G524G

c.1572C>G

Surrounding Variants

1 paper

NM_002160.4

p.A528T

c.1582G>A

1 paper

NM_002160.4

p.L530R

c.1589T>G

1 paper

NM_002160.4

p.V517I

c.1549G>A

1 paper

NM_002160.4

p.P533R

c.1598C>G

2 papers

NM_002160.4

p.G514R

c.1540G>C

2 papers

NM_002160.4

p.G514R

c.1540G>A

1 paper

NM_002160.4

p.H537R

c.1610A>G

2 papers

NM_002160.4

p.Q539*

c.1615C>T

9 papers

NM_002160.4

p.Q539R

c.1616A>G

1 paper

NM_002160.4

p.D504G

c.1511A>G

1 paper

NM_002160.4

p.Q546R

c.1637A>G

3 papers

NM_002160.4

p.C547*

c.1641C>A