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

9 papers

NM_003285.3

p.I17V

c.49A>G

Surrounding Variants

1 paper

NM_003285.3

p.G16S

c.46G>A

1 paper

NM_003285.3

p.L22V

c.64C>G

1 paper

NM_003285.3

p.S24C

c.71C>G

1 paper

NM_003285.3

p.S24Y

c.71C>A

1 paper

NM_003285.3

p.S24S

c.72C>T

1 paper

NM_003285.3

p.D4V

c.11A>T

1 paper

NM_003285.3

p.E47*

c.139G>T

1 paper

NM_003285.3

p.T56T

c.168A>G

1 paper

NM_003285.3

p.S58G

c.172A>G

1 paper

NM_003285.3

p.Q61Q

c.183G>A

1 paper

NM_003285.3

p.P62R

c.185C>G

1 paper

NM_003285.3

p.F65L

c.195C>A