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.L41P

c.122T>C

Surrounding Variants

1 paper

NM_002160.4

p.L41Q

c.122T>A

1 paper

NM_002160.4

p.L41L

c.121C>T

1 paper

NM_002160.4

p.P42L

c.125C>T

1 paper

NM_002160.4

p.P42R

c.125C>G

1 paper

NM_002160.4

p.A39T

c.115G>A

1 paper

NM_002160.4

p.E44*

c.130G>T

1 paper

NM_002160.4

p.E44Q

c.130G>C

2 papers

NM_002160.4

p.E44K

c.130G>A

2 papers

NM_002160.4

p.E44D

c.132G>T

2 papers

NM_002160.4

p.E44D

c.132G>C

1 paper

NM_002160.4

p.G36Fs

c.107_108delinsAFs

1 paper

NM_002160.4

p.P47Q

c.140C>A