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

2 papers

NM_003285.3

p.D595N

c.1783G>A

Surrounding Variants

1 paper

NM_003285.3

p.D595E

c.1785T>G

1 paper

NM_003285.3

p.D595E

c.1785T>A

1 paper

NM_003285.3

p.R601G

c.1801C>G

1 paper

NM_003285.3

p.S604T

c.1810T>A

1 paper

NM_003285.3

p.R605H

c.1814G>A

1 paper

NM_003285.3

p.L612L

c.1836C>T

1 paper

NM_003285.3

p.E613K

c.1837G>A

1 paper

NM_003285.3

p.Q622*

c.1864C>T

1 paper

NM_003285.3

p.T630I

c.1889C>T

1 paper

NM_003285.3

p.E634K

c.1900G>A

1 paper

NM_003285.3

p.G633delFs

c.1899delA

2 papers

NM_003285.3

p.E634fs

c.1900_1901fs