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.F553L

c.1659T>G

Surrounding Variants

1 paper

NM_002160.4

p.F553L

c.1659T>A

1 paper

NM_002160.4

p.F553L

c.1657T>C

1 paper

NM_002160.4

p.D557E

c.1671C>G

1 paper

NM_002160.4

p.D557E

c.1671C>A

6 papers

NM_002160.4

p.V548M

c.1642G>A

3 papers

NM_002160.4

p.C547*

c.1641C>A

1 paper

NM_002160.4

p.Q546R

c.1637A>G

9 papers

NM_002160.4

p.Q539R

c.1616A>G

2 papers

NM_002160.4

p.Q539*

c.1615C>T

1 paper

NM_002160.4

p.H537R

c.1610A>G

1 paper

NM_002160.4

p.R572C

c.1714C>T

1 paper

NM_002160.4

p.R572H

c.1715G>A