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.R199Q

c.596G>A

Surrounding Variants

1 paper

NM_002160.4

p.G198C

c.592G>T

1 paper

NM_002160.4

p.R197Q

c.590G>A

1 paper

NM_002160.4

p.G203R

c.607G>C

1 paper

NM_002160.4

p.G203R

c.607G>A

3 papers

NM_002160.4

p.G203V

c.608G>T

1 paper

NM_002160.4

p.C194F

c.581G>T

1 paper

NM_002160.4

p.G192R

c.574G>C

1 paper

NM_002160.4

p.D209Y

c.625G>T

2 papers

NM_002160.4

p.G210S

c.628G>A

1 paper

NM_002160.4

p.E214*

c.640G>T

1 paper

NM_002160.4

p.P183H

c.548C>A

1 paper

NM_002160.4

p.Q218K

c.652C>A