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.C394R

c.1180T>C

Surrounding Variants

1 paper

NM_002160.4

p.C394_D395delFs

c.1182_1183delCA

1 paper

NM_002160.4

p.R391Q

c.1172G>A

1 paper

NM_002160.4

p.V388A

c.1163T>C

2 papers

NM_002160.4

p.R384C

c.1150C>T

1 paper

NM_002160.4

p.D380H

c.1138G>C

1 paper

NM_002160.4

p.C412R

c.1234T>C

1 paper

NM_002160.4

p.K375N

c.1125G>T

1 paper

NM_002160.4

p.S373S

c.1119C>T

1 paper

NM_002160.4

p.G369insFs

c.1106_1107insT

1 paper

NM_002160.4

p.F367S

c.1100T>C

1 paper

NM_002160.4

p.G359_Q360insFs

c.1077_1078insG

1 paper

NM_002160.4

p.G428D

c.1283G>A