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.E1193_F1195delFs

c.3577_3583del7

Surrounding Variants

1 paper

NM_002160.4

p.Y1194F

c.3581A>T

1 paper

NM_002160.4

p.I1197V

c.3589A>G

1 paper

NM_002160.4

p.Q1198E

c.3592C>G

1 paper

NM_002160.4

p.Y1192H

c.3574T>C

1 paper

NM_002160.4

p.K1182_L1183del2

c.3544_3548del6

1 paper

NM_002160.4

p.A1207P

c.3619G>C

1 paper

NM_002160.4

p.K1182delFs

c.3546delT

1 paper

NM_002160.4

p.A1208_Q1209delFs

c.3624_3625delGG

1 paper

NM_002160.4

p.D1179E

c.3537T>G

1 paper

NM_002160.4

p.D1179E

c.3537T>A

2 papers

NM_002160.4

p.V1213I

c.3637G>A

1 paper

NM_002160.4

p.V1213V

c.3639C>A