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.R1130Q

c.3389G>A

Surrounding Variants

1 paper

NM_003285.3

p.G1128Splc

c.3383-1G>A

3 papers

NM_003285.3

p.T1147I

c.3440C>T

1 paper

NM_003285.3

p.L1148F

c.3444G>T

1 paper

NM_003285.3

p.L1148F

c.3444G>C

1 paper

NM_003285.3

p.Y1152Y

c.3456C>T

1 paper

NM_003285.3

p.G1158G

c.3474G>A

1 paper

NM_003285.3

p.E1159G

c.3476A>G

1 paper

NM_003285.3

p.R1183W

c.3547C>T

1 paper

NM_003285.3

p.R1183insFs

c.3549dupG

4 papers

NM_003285.3

p.R1192W

c.3574C>T

1 paper

NM_003285.3

p.R1192G

c.3574C>G

1 paper

NM_003285.3

p.G1200D

c.3599G>A