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

6 papers

NM_001080477.4

p.R2563W

c.7687C>T

Surrounding Variants

1 paper

NM_001080477.4

p.R2568C

c.7702C>T

1 paper

NM_001080477.4

p.D2558H

c.7672G>C

1 paper

NM_001080477.4

p.E2556K

c.7666G>A

1 paper

NM_001080477.4

p.F2549L

c.7647C>A

1 paper

NM_001080477.4

p.F2549L

c.7647C>G

1 paper

NM_001080477.4

p.V2577M

c.7729G>A

1 paper

NM_001080477.4

p.F2549L

c.7645T>C

1 paper

NM_001080477.4

p.T2584M

c.7751C>T

1 paper

NM_001080477.4

p.T2590M

c.7769C>T

1 paper

NM_001080477.4

p.R2591H

c.7772G>A

1 paper

NM_001080477.4

p.R2592G

c.7774A>G

1 paper

NM_001080477.4

p.L2534M

c.7600C>A