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

7 papers

NM_002160.4

p.Q680R

c.2039A>G

Surrounding Variants

1 paper

NM_002160.4

p.I679N

c.2036T>A

1 paper

NM_002160.4

p.E681D

c.2043G>T

1 paper

NM_002160.4

p.E683K

c.2047G>A

2 papers

NM_002160.4

p.E683E

c.2049G>A

2 papers

NM_002160.4

p.G672R

c.2014G>C

2 papers

NM_002160.4

p.G672R

c.2014G>A

1 paper

NM_002160.4

p.R691C

c.2071C>T

1 paper

NM_002160.4

p.R669H

c.2006G>A

1 paper

NM_002160.4

p.P703A

c.2107C>G

1 paper

NM_002160.4

p.P703L

c.2108C>T

1 paper

NM_002160.4

p.T657M

c.1970C>T

1 paper

NM_002160.4

p.A706T

c.2116G>A