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.N80_F81del2

c.238_242del6

Surrounding Variants

1 paper

NM_001080477.4

p.Q79H

c.237G>C

1 paper

NM_001080477.4

p.Q79H

c.237G>T

1 paper

NM_001080477.4

p.T82delFs

c.244_245delAC

1 paper

NM_001080477.4

p.L83I

c.247C>A

1 paper

NM_001080477.4

p.L86F

c.258A>T

1 paper

NM_001080477.4

p.G87A

c.260G>C

1 paper

NM_001080477.4

p.V88F

c.262G>T

1 paper

NM_001080477.4

p.R94Q

c.281G>A

1 paper

NM_001080477.4

p.C100*

c.300T>A

1 paper

NM_001080477.4

p.G104R

c.310G>A

1 paper

NM_001080477.4

p.G104R

c.310G>C

1 paper

NM_001080477.4

p.G104E

c.311G>A