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.P1633_F1636delFs

c.4898_4908del11

Surrounding Variants

1 paper

NM_002160.4

p.R1637C

c.4909C>T

1 paper

NM_002160.4

p.D1634Y

c.4900G>T

1 paper

NM_002160.4

p.F1647F

c.4941C>T

2 papers

NM_002160.4

p.D1648N

c.4942G>A

1 paper

NM_002160.4

p.L1626R

c.4877T>G

1 paper

NM_002160.4

p.N1649delFs

c.4945delT

1 paper

NM_002160.4

p.D1624insFs

c.4872dupC

1 paper

NM_002160.4

p.L1652_K1653insFs

c.4956_4957insA

1 paper

NM_002160.4

p.I1654insFs

c.4960_4961insA

1 paper

NM_002160.4

p.D1656Y

c.4966G>T

1 paper

NM_002160.4

p.D1656H

c.4966G>C

1 paper

NM_002160.4

p.E1618Splc

c.4853-1G>C