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.E309K

c.925G>A

Surrounding Variants

1 paper

NM_003285.3

p.E308K

c.922G>A

2 papers

NM_003285.3

p.G310E

c.929G>A

1 paper

NM_003285.3

p.L311P

c.932T>C

1 paper

NM_003285.3

p.S302N

c.905G>A

1 paper

NM_003285.3

p.G317A

c.950G>C

1 paper

NM_003285.3

p.P321T

c.961C>A

2 papers

NM_003285.3

p.G293S

c.877G>A

1 paper

NM_003285.3

p.A325E

c.974C>A

1 paper

NM_003285.3

p.E285G

c.854A>G

1 paper

NM_003285.3

p.E284K

c.850G>A

1 paper

NM_003285.3

p.T280I

c.839C>T

1 paper

NM_003285.3

p.N278fs

c.832_833fs