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.L18F

c.52C>T

Surrounding Variants

1 paper

NM_002160.4

p.A19T

c.55G>A

2 papers

NM_002160.4

p.E21K

c.61G>A

1 paper

NM_002160.4

p.A14_T20delFs

c.42_60del19

1 paper

NM_002160.4

p.F12Y

c.35T>A

1 paper

NM_002160.4

p.M1_G10del0

c.1_30del30

1 paper

NM_002160.4

p.A9E

c.26C>A

1 paper

NM_002160.4

p.K27R

c.80A>G

1 paper

NM_002160.4

p.V28A

c.83T>C

1 paper

NM_002160.4

p.R30W

c.88C>T

1 paper

NM_002160.4

p.Q6E

c.16C>G

1 paper

NM_002160.4

p.T5P

c.13A>C

2 papers

NM_002160.4

p.M4I

c.12G>C