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

1–12 of 521 variants

11 papers

NM_002160.4

p.I1677L

c.5029A>T

11 papers

NM_002160.4

p.V1773M

c.5317G>A

10 papers

NM_002160.4

p.I1677L

c.5029A>C

10 papers

NM_002160.4

p.E2008Q

c.6022G>C

9 papers

NM_002160.4

p.Q539R

c.1616A>G

9 papers

NM_002160.4

p.R1066H

c.3197G>A

7 papers

NM_002160.4

p.Q680R

c.2039A>G

7 papers

NM_002160.4

p.L1247I

c.3739C>A

7 papers

NM_002160.4

p.A1781T

c.5341G>A

6 papers

NM_002160.4

p.D67N

c.199G>A

6 papers

NM_002160.4

p.V548M

c.1642G>A

5 papers

NM_002160.4

p.T1796S

c.5386A>T