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

3 papers

NM_003285.3

p.T592A

c.1774A>G

Surrounding Variants

1 paper

NM_003285.3

p.T592K

c.1775C>A

1 paper

NM_003285.3

p.E593Splc

c.1777+2T>C

1 paper

NM_003285.3

p.E593Splc

c.1777+10C>T

1 paper

NM_003285.3

p.R578*

c.1732C>T

1 paper

NM_003285.3

p.E571K

c.1711G>A

1 paper

NM_003285.3

p.Y570Y

c.1710C>T

1 paper

NM_003285.3

p.R569*

c.1705C>T

1 paper

NM_003285.3

p.R565W

c.1693C>T

1 paper

NM_003285.3

p.L564P

c.1691T>C

2 papers

NM_003285.3

p.D532N

c.1594G>A

1 paper

NM_003285.3

p.R528Q

c.1583G>A

1 paper

NM_003285.3

p.T518T

c.1554T>C