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.G145D

c.434G>A

Surrounding Variants

1 paper

NM_002160.4

p.C147G

c.439T>G

1 paper

NM_002160.4

p.L148V

c.442C>G

1 paper

NM_002160.4

p.L148P

c.443T>C

1 paper

NM_002160.4

p.P150_A151insFs

c.450_451insG

1 paper

NM_002160.4

p.C140R

c.418T>C

1 paper

NM_002160.4

p.E138K

c.412G>A

2 papers

NM_002160.4

p.G153Splc

c.457+1G>A

1 paper

NM_002160.4

p.L136L

c.406C>T

1 paper

NM_002160.4

p.L122V

c.364C>G

1 paper

NM_002160.4

p.A116_D118del0

c.346_354del9

1 paper

NM_002160.4

p.C113G

c.337T>G

1 paper

NM_002160.4

p.G112del1

c.334_336delGCC