Varaico: Literature-Extracted Genetic Variants

Gene:TENM3
Variant:p.C619*

TENM3

219 papers

RefSeq Summary

This gene encodes a member of the teneurin transmembrane protein family. The encoded protein may be involved in the regulation of neuronal development including development of the visual pathway. Muta...

Pfam Domains

Ten_Naa 11–175UCSCTeneurin Intracellular Region
GBD_Tenm3aa 382–511UCSCTeneurin-3-like, galactose-binding domain-like
EGF_Teneurinaa 518–547UCSCTeneurin-like EGF domain
EGF_Teneurinaa 549–578UCSCTeneurin-like EGF domain
EGF_Teneurinaa 583–612UCSCTeneurin-like EGF domain
EGF_Teneurinaa 615–644UCSCTeneurin-like EGF domain

Gene Aliases

HGNC Name

teneurin transmembrane protein 3

HGNC Previous Symbol

ODZ3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_001080477.4
p.C619*
c.1857T>A
Surrounding Variants
1 paper
NM_001080477.4
p.G618E
c.1853G>A
1 paper
NM_001080477.4
p.S633R
c.1897A>C
1 paper
NM_001080477.4
p.S633R
c.1899T>A
1 paper
NM_001080477.4
p.S633R
c.1899T>G
1 paper
NM_001080477.4
p.G637R
c.1909G>A
1 paper
NM_001080477.4
p.G637R
c.1909G>C
1 paper
NM_001080477.4
p.H655N
c.1963C>A
1 paper
NM_001080477.4
p.G656*
c.1966G>T
1 paper
NM_001080477.4
p.T657M
c.1970C>T
1 paper
NM_001080477.4
p.E661G
c.1982A>G
1 paper
NM_001080477.4
p.S608G
c.1822A>G
1 paper
NM_001080477.4
p.G588A
c.1763G>C
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