Varaico: Literature-Extracted Genetic Variants

Gene:TENM3
Variant:p.R1888C

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
1 paper
NM_001080477.4
p.R1888C
c.5662C>T
Surrounding Variants
1 paper
NM_001080477.4
p.W1886*
c.5658G>A
1 paper
NM_001080477.4
p.W1886*
c.5657G>A
1 paper
NM_001080477.4
p.D1884N
c.5650G>A
1 paper
NM_001080477.4
p.A1898G
c.5693C>G
1 paper
NM_001080477.4
p.R1899H
c.5696G>A
1 paper
NM_001080477.4
p.R1906*
c.5716C>T
1 paper
NM_001080477.4
p.G1909C
c.5725G>T
1 paper
NM_001080477.4
p.N1921N
c.5763C>T
1 paper
NM_001080477.4
p.D1927E
c.5781C>A
1 paper
NM_001080477.4
p.D1927E
c.5781C>G
1 paper
NM_001080477.4
p.E1930K
c.5788G>A
1 paper
NM_001080477.4
p.Q1936P
c.5807A>C
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