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

1–12 of 264 variants

9 papers

NM_003285.3

p.I17V

c.49A>G

6 papers

NM_003285.3

p.A128S

c.382G>T

6 papers

NM_003285.3

p.R643K

c.1928G>A

5 papers

NM_003285.3

p.T166A

c.496A>G

4 papers

NM_003285.3

p.N180H

c.538A>C

4 papers

NM_003285.3

p.R1192W

c.3574C>T

3 papers

NM_003285.3

p.Y69*

c.207C>G

3 papers

NM_003285.3

p.Y69*

c.207C>A

3 papers

NM_003285.3

p.A277insFs

c.831dupC

3 papers

NM_003285.3

p.A397T

c.1189G>A

3 papers

NM_003285.3

p.T592A

c.1774A>G

3 papers

NM_003285.3

p.T1147I

c.3440C>T