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

2 papers

NM_002160.4

p.A1055A

c.3165C>T

Surrounding Variants

1 paper

NM_002160.4

p.E1056K

c.3166G>A

1 paper

NM_002160.4

p.A1065T

c.3193G>A

2 papers

NM_002160.4

p.R1066C

c.3196C>T

9 papers

NM_002160.4

p.R1066H

c.3197G>A

1 paper

NM_002160.4

p.V1067M

c.3199G>A

1 paper

NM_002160.4

p.G1042C

c.3124G>T

1 paper

NM_002160.4

p.G1028A

c.3083G>C

1 paper

NM_002160.4

p.L1021I

c.3061C>A

1 paper

NM_002160.4

p.R1016H

c.3047G>A

1 paper

NM_002160.4

p.R1016S

c.3046C>A

1 paper

NM_002160.4

p.K1011T

c.3032A>C

1 paper

NM_002160.4

p.T1002_L1003insTT

c.3004_3008ins6