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.G732A

c.2195G>C

Surrounding Variants

1 paper

NM_001080477.4

p.W733*

c.2198G>A

1 paper

NM_001080477.4

p.W733*

c.2199G>A

1 paper

NM_001080477.4

p.H719H

c.2157C>T

1 paper

NM_001080477.4

p.Q709*

c.2125C>T

1 paper

NM_001080477.4

p.C707W

c.2121T>G

1 paper

NM_001080477.4

p.T703M

c.2108C>T

1 paper

NM_001080477.4

p.T695M

c.2084C>T

10 papers

NM_001080477.4

p.T695fs

c.2083_2084fs

10 papers

NM_001080477.4

p.T695insFs

c.2083dupA

1 paper

NM_001080477.4

p.G694E

c.2081G>A

1 paper

NM_001080477.4

p.M692fs

c.2074_2075fs

1 paper

NM_001080477.4

p.C681C

c.2043T>C