Varaico: Literature-Extracted Genetic Variants

Gene:TNR
Variant:p.P62R

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.P62R
c.185C>G
Surrounding Variants
1 paper
NM_003285.3
p.Q61Q
c.183G>A
1 paper
NM_003285.3
p.F65L
c.195C>A
1 paper
NM_003285.3
p.S58G
c.172A>G
1 paper
NM_003285.3
p.H67D
c.199C>G
1 paper
NM_003285.3
p.V68M
c.202G>A
1 paper
NM_003285.3
p.T56T
c.168A>G
3 papers
NM_003285.3
p.Y69*
c.207C>G
3 papers
NM_003285.3
p.Y69*
c.207C>A
1 paper
NM_003285.3
p.N70N
c.210C>T
1 paper
NM_003285.3
p.N72I
c.215A>T
1 paper
NM_003285.3
p.D76G
c.227A>G
1 paper
NM_003285.3
p.E47*
c.139G>T
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