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.S81delFs

c.241delA

Surrounding Variants

1 paper

NM_002160.4

p.S81L

c.242C>T

1 paper

NM_002160.4

p.E82fs

c.244_245fs

1 paper

NM_002160.4

p.E82G

c.245A>G

1 paper

NM_002160.4

p.D76A

c.227A>C

3 papers

NM_002160.4

p.D76N

c.226G>A

1 paper

NM_002160.4

p.F87L

c.259T>C

1 paper

NM_002160.4

p.F87L

c.261T>G

1 paper

NM_002160.4

p.F87L

c.261T>A

1 paper

NM_002160.4

p.E74A

c.221A>C

1 paper

NM_002160.4

p.A71V

c.212C>T

3 papers

NM_002160.4

p.V92V

c.276G>A

1 paper

NM_002160.4

p.E69A

c.206A>C