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.N191K

c.573C>G

Surrounding Variants

1 paper

NM_003285.3

p.N191K

c.573C>A

1 paper

NM_003285.3

p.G196A

c.587G>C

1 paper

NM_003285.3

p.G196D

c.587G>A

1 paper

NM_003285.3

p.G196G

c.588C>T

1 paper

NM_003285.3

p.C186R

c.556T>C

1 paper

NM_003285.3

p.K197N

c.591G>T

1 paper

NM_003285.3

p.K197N

c.591G>C

1 paper

NM_003285.3

p.C199F

c.596G>T

2 papers

NM_003285.3

p.S200L

c.599C>T

1 paper

NM_003285.3

p.E201K

c.601G>A

1 paper

NM_003285.3

p.Y203H

c.607T>C

4 papers

NM_003285.3

p.N180H

c.538A>C