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

2 papers

NM_002160.4

p.G1749G

c.5247A>T

Surrounding Variants

2 papers

NM_002160.4

p.R1741Q

c.5222G>A

1 paper

NM_002160.4

p.E1738insFs

c.5212_5213ins14

3 papers

NM_002160.4

p.T1734T

c.5202A>G

1 paper

NM_002160.4

p.P1713T

c.5137C>A

1 paper

NM_002160.4

p.G1711G

c.5133C>A

1 paper

NM_002160.4

p.P1752S

c.5254C>T

1 paper

NM_002160.4

p.D1758D

c.5274C>T

1 paper

NM_002160.4

p.G1759R

c.5275G>C

1 paper

NM_002160.4

p.G1759R

c.5275G>A

11 papers

NM_002160.4

p.V1773M

c.5317G>A

7 papers

NM_002160.4

p.A1781T

c.5341G>A

1 paper

NM_002160.4

p.S1788delFs

c.5362delT