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.E1672fs

c.5014_5015fs

Surrounding Variants

2 papers

NM_002160.4

p.P1671insFs

c.5012dupC

1 paper

NM_002160.4

p.E1672fs

c.5014_5015fs

1 paper

NM_002160.4

p.R1675M

c.5024G>T

11 papers

NM_002160.4

p.I1677L

c.5029A>T

10 papers

NM_002160.4

p.I1677L

c.5029A>C

1 paper

NM_002160.4

p.R1681T

c.5042G>C

1 paper

NM_002160.4

p.Y1686*

c.5058C>G

1 paper

NM_002160.4

p.Y1686*

c.5058C>A

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.I1654insFs

c.4960_4961insA

1 paper

NM_002160.4

p.L1690F

c.5068C>T