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.Q97H

c.291G>C

Surrounding Variants

1 paper

NM_002160.4

p.H102Y

c.304C>T

1 paper

NM_002160.4

p.V92delFs

c.276delC

3 papers

NM_002160.4

p.V92V

c.276G>A

1 paper

NM_002160.4

p.P107L

c.320C>T

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.P107fs

c.319_320fs

1 paper

NM_002160.4

p.F87L

c.259T>C

1 paper

NM_002160.4

p.R108H

c.323G>A

1 paper

NM_002160.4

p.R108R

c.324C>T

1 paper

NM_002160.4

p.C111G

c.331T>G

1 paper

NM_002160.4

p.C113G

c.337T>G