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.P1580A

c.4738C>G

Surrounding Variants

1 paper

NM_001080477.4

p.R1572H

c.4715G>A

1 paper

NM_001080477.4

p.T1563A

c.4687A>G

1 paper

NM_001080477.4

p.D1558E

c.4674C>A

1 paper

NM_001080477.4

p.D1558E

c.4674C>G

1 paper

NM_001080477.4

p.Y1547H

c.4639T>C

1 paper

NM_001080477.4

p.L1617F

c.4851A>C

1 paper

NM_001080477.4

p.L1617F

c.4851A>T

1 paper

NM_001080477.4

p.T1619P

c.4855A>C

1 paper

NM_001080477.4

p.T1517A

c.4549A>G

1 paper

NM_001080477.4

p.A1514V

c.4541C>T

1 paper

NM_001080477.4

p.V1498_S1499del2

c.4492_4496del6

2 papers

NM_001080477.4

p.A1497P

c.4489G>C