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.G248G

c.744G>A

Surrounding Variants

1 paper

NM_003285.3

p.L244F

c.730C>T

1 paper

NM_003285.3

p.E254D

c.762G>T

1 paper

NM_003285.3

p.E254D

c.762G>C

1 paper

NM_003285.3

p.P236S

c.706C>T

1 paper

NM_003285.3

p.E263*

c.787G>T

2 papers

NM_003285.3

p.R234W

c.700C>T

1 paper

NM_003285.3

p.E232K

c.694G>A

1 paper

NM_003285.3

p.C230Y

c.689G>A

1 paper

NM_003285.3

p.G268E

c.803G>A

1 paper

NM_003285.3

p.D228E

c.684T>G

1 paper

NM_003285.3

p.D228E

c.684T>A

1 paper

NM_003285.3

p.G227G

c.681G>A