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.A472V

c.1415C>T

Surrounding Variants

1 paper

NM_001080477.4

p.R470Q

c.1409G>A

1 paper

NM_001080477.4

p.R470W

c.1408C>T

1 paper

NM_001080477.4

p.T465M

c.1394C>T

2 papers

NM_001080477.4

p.R460Q

c.1379G>A

1 paper

NM_001080477.4

p.R460W

c.1378C>T

1 paper

NM_001080477.4

p.R453M

c.1358G>T

1 paper

NM_001080477.4

p.G451S

c.1351G>A

1 paper

NM_001080477.4

p.D450G

c.1349A>G

1 paper

NM_001080477.4

p.K500delFs

c.1498_1499delAA

1 paper

NM_001080477.4

p.K500N

c.1500A>C

1 paper

NM_001080477.4

p.K500N

c.1500A>T

1 paper

NM_001080477.4

p.V505M

c.1513G>A