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.G526*

c.1576G>T

Surrounding Variants

1 paper

NM_001080477.4

p.N521K

c.1563T>A

3 papers

NM_001080477.4

p.R520*

c.1558C>T

1 paper

NM_001080477.4

p.G541R

c.1621G>C

1 paper

NM_001080477.4

p.E513Splc

c.1538-21C>T

1 paper

NM_001080477.4

p.A548V

c.1643C>T

1 paper

NM_001080477.4

p.G557R

c.1669G>A

1 paper

NM_001080477.4

p.G557R

c.1669G>C

1 paper

NM_001080477.4

p.Q558delFs

c.1673delA

1 paper

NM_001080477.4

p.S560S

c.1680C>A

1 paper

NM_001080477.4

p.G562A

c.1685G>C

2 papers

NM_001080477.4

p.R563H

c.1688G>A

1 paper

NM_001080477.4

p.R563P

c.1688G>C