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.R2198C

c.6592C>T

Surrounding Variants

1 paper

NM_001080477.4

p.R2198H

c.6593G>A

1 paper

NM_001080477.4

p.G2195C

c.6583G>T

1 paper

NM_001080477.4

p.R2190Q

c.6569G>A

1 paper

NM_001080477.4

p.Y2207C

c.6620A>G

1 paper

NM_001080477.4

p.R2183Q

c.6548G>A

1 paper

NM_001080477.4

p.R2215*

c.6643C>T

1 paper

NM_001080477.4

p.R2178*

c.6532C>T

1 paper

NM_001080477.4

p.S2221G

c.6661A>G

1 paper

NM_001080477.4

p.R2174C

c.6520C>T

1 paper

NM_001080477.4

p.A2168A

c.6504G>A

1 paper

NM_001080477.4

p.R2228C

c.6682C>T

1 paper

NM_001080477.4

p.L2155P

c.6464T>C