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.L1007F

c.3021G>C

Surrounding Variants

1 paper

NM_001080477.4

p.L1007F

c.3021G>T

1 paper

NM_001080477.4

p.S1005F

c.3014C>T

1 paper

NM_001080477.4

p.A1012S

c.3034G>T

1 paper

NM_001080477.4

p.K1019R

c.3056A>G

7 papers

NM_001080477.4

p.V990fs

c.2968_2969fs

6 papers

NM_001080477.4

p.Q989_V990Splc

c.2968-2A>T

1 paper

NM_001080477.4

p.L1036I

c.3106C>A

1 paper

NM_001080477.4

p.G1042A

c.3125G>C

1 paper

NM_001080477.4

p.Q1046*

c.3136C>T

1 paper

NM_001080477.4

p.W1048*

c.3143G>A

1 paper

NM_001080477.4

p.W1048*

c.3144G>A

1 paper

NM_001080477.4

p.P1053T

c.3157C>A