Varaico: Literature-Extracted Genetic Variants

TNR

216 papers

RefSeq Summary

This gene encodes a member of the tenascin family of extracellular matrix glycoproteins. The encoded protein is restricted to the central nervous system. The protein may play a role in neurite outgrow...

Pfam Domains

EGF_TENaa 147–276UCSCTeneurin EGF domain

EGF_Teneurinaa 297–325UCSCTeneurin-like EGF domain

fn3aa 327–410UCSCFibronectin type III domain

fn3aa 416–503UCSCFibronectin type III domain

fn3aa 505–591UCSCFibronectin type III domain

fn3aa 595–681UCSCFibronectin type III domain

Gene Aliases

HGNC Name

tenascin R

HGNC Alias Names

restrictin; janusin

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_003285.3

p.E432E

c.1296G>A

Surrounding Variants

1 paper

NM_003285.3

p.T425T

c.1275G>A

1 paper

NM_003285.3

p.T425M

c.1274C>T

1 paper

NM_003285.3

p.S441F

c.1322C>T

1 paper

NM_003285.3

p.F440insFs

c.1318_1319insTT

1 paper

NM_003285.3

p.G444W

c.1330G>T

1 paper

NM_003285.3

p.G420E

c.1259G>A

1 paper

NM_003285.3

p.K452R

c.1355A>G

1 paper

NM_003285.3

p.I459fs

c.1375_1376fs

1 paper

NM_003285.3

p.V458_I459delFs

c.1374_1375delTC

1 paper

NM_003285.3

p.G473R

c.1417G>A

1 paper

NM_003285.3

p.G477E

c.1430G>A

1 paper

NM_003285.3

p.R492C

c.1474C>T