Varaico: Literature-Extracted Genetic Variants

TENM1

313 papers

RefSeq Summary

The protein encoded by this gene belongs to the tenascin family and teneurin subfamily. It is expressed in the neurons and may function as a cellular signal transducer. Several alternatively spliced t...

Pfam Domains

Ten_Naa 162–317UCSCTeneurin Intracellular Region

GBD_Tenm3aa 396–525UCSCTeneurin-3-like, galactose-binding domain-like

EGF_TENaa 534–775UCSCTeneurin EGF domain

TTR_TEN1-4aa 881–966UCSCTeneurin TTR-like domain

FN-plug_TEN1-4aa 1039–1124UCSCTeneurin 1-4, FN-plug domain

TEN_NHLaa 1165–1522UCSCTeneurin NHL domain

Gene Aliases

HGNC Name

teneurin transmembrane protein 1

HGNC Previous Symbols

ODZ3; TNM; ODZ1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001163278.2

p.F496L

c.1486T>C

Surrounding Variants

1 paper

NM_001163278.2

p.L486R

c.1457T>G

1 paper

NM_001163278.2

p.P483fs

c.1447_1448fs

1 paper

NM_001163278.2

p.D478A

c.1433A>C

1 paper

NM_001163278.2

p.K514*

c.1540A>T

1 paper

NM_001163278.2

p.M463I

c.1389G>T

1 paper

NM_001163278.2

p.M463I

c.1389G>C

1 paper

NM_001163278.2

p.M463I

c.1389G>A

1 paper

NM_001163278.2

p.S435F

c.1304C>T

1 paper

NM_001163278.2

p.H425P

c.1274A>C

1 paper

NM_001163278.2

p.T423S

c.1268C>G

1 paper

NM_001163278.2

p.T423S

c.1267A>T

1 paper

NM_001163278.2

p.R419C

c.1255C>T