Varaico: Literature-Extracted Genetic Variants

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.R1992T

c.5975G>C

Surrounding Variants

1 paper

NM_001080477.4

p.Y1993_R1994insFs

c.5979_5980ins25

2 papers

NM_001080477.4

p.R2002_Q2003delFs

c.6006_6009del4

2 papers

NM_001080477.4

p.Q2003fs

c.6007_6008fs

1 paper

NM_001080477.4

p.V2013E

c.6038T>A

1 paper

NM_001080477.4

p.D1962G

c.5885A>G

3 papers

NM_001080477.4

p.R2026*

c.6076C>T

1 paper

NM_001080477.4

p.T1942T

c.5826A>G

1 paper

NM_001080477.4

p.Q1936P

c.5807A>C

1 paper

NM_001080477.4

p.E1930K

c.5788G>A

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.N1921N

c.5763C>T