Varaico: Literature-Extracted Genetic Variants

TENM4

269 papers

RefSeq Summary

The protein encoded by this gene plays a role in establishing proper neuronal connectivity during development. Defects in this gene have been associated with hereditary essential tremor-5. [provided b...

Pfam Domains

Ten_Naa 11–170UCSCTeneurin Intracellular Region

GBD_Tenm3aa 430–559UCSCTeneurin-3-like, galactose-binding domain-like

EGF_TENaa 568–810UCSCTeneurin EGF domain

TTR_TEN1-4aa 916–1001UCSCTeneurin TTR-like domain

FN-plug_TEN1-4aa 1074–1159UCSCTeneurin 1-4, FN-plug domain

TEN_NHLaa 1200–1564UCSCTeneurin NHL domain

Gene Aliases

HGNC Name

teneurin transmembrane protein 4

HGNC Previous Symbol

ODZ4

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001098816.3

p.W1408C

c.4224G>T

Surrounding Variants

1 paper

NM_001098816.3

p.W1408C

c.4224G>C

1 paper

NM_001098816.3

p.H1405H

c.4215C>T

1 paper

NM_001098816.3

p.S1420*

c.4259C>G

1 paper

NM_001098816.3

p.S1420*

c.4259C>A

1 paper

NM_001098816.3

p.N1427N

c.4281T>C

1 paper

NM_001098816.3

p.V1428E

c.4283T>A

9 papers

NM_001098816.3

p.A1442T

c.4324G>A

1 paper

NM_001098816.3

p.G1443R

c.4327G>C

1 paper

NM_001098816.3

p.G1443R

c.4327G>A

3 papers

NM_001098816.3

p.R1444K

c.4331G>A

1 paper

NM_001098816.3

p.A1462V

c.4385C>T

1 paper

NM_001098816.3

p.Q1403_V1404Splc

c.4210-148G>A