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.G576S

c.1726G>A

Surrounding Variants

1 paper

NM_002160.4

p.D575H

c.1723G>C

1 paper

NM_002160.4

p.I579insFs

c.1735dupA

1 paper

NM_002160.4

p.R572H

c.1715G>A

1 paper

NM_002160.4

p.R572C

c.1714C>T

1 paper

NM_002160.4

p.D588Y

c.1762G>T

1 paper

NM_002160.4

p.D557E

c.1671C>G

1 paper

NM_002160.4

p.D557E

c.1671C>A

1 paper

NM_002160.4

p.P595L

c.1784C>T

1 paper

NM_002160.4

p.F553L

c.1659T>G

1 paper

NM_002160.4

p.F553L

c.1659T>A

1 paper

NM_002160.4

p.F553L

c.1657T>C

1 paper

NM_002160.4

p.L601*

c.1802T>G