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.C350F

c.1049G>T

Surrounding Variants

1 paper

NM_002160.4

p.A349D

c.1046C>A

1 paper

NM_002160.4

p.C346Y

c.1037G>A

4 papers

NM_002160.4

p.R355W

c.1063C>T

1 paper

NM_002160.4

p.C346_G354del9

c.1036_1061del27

1 paper

NM_002160.4

p.E358K

c.1072G>A

1 paper

NM_002160.4

p.G342R

c.1024G>C

1 paper

NM_002160.4

p.G342R

c.1024G>A

1 paper

NM_002160.4

p.G359_Q360insFs

c.1077_1078insG

1 paper

NM_002160.4

p.D340N

c.1018G>A

1 paper

NM_002160.4

p.T337insFs

c.1011dupA

1 paper

NM_002160.4

p.E334_F336del3

c.1000_1007del9

1 paper

NM_002160.4

p.G335D

c.1004G>A