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.G1512V

c.4535G>T

Surrounding Variants

1 paper

NM_001098816.3

p.N1517fs

c.4549_4550fs

1 paper

NM_001098816.3

p.V1506I

c.4516G>A

1 paper

NM_001098816.3

p.G1501E

c.4502G>A

1 paper

NM_001098816.3

p.K1535Q

c.4603A>C

1 paper

NM_001098816.3

p.A1543S

c.4627G>T

1 paper

NM_001098816.3

p.D1547Y

c.4639G>T

1 paper

NM_001098816.3

p.V1552M

c.4654G>A

1 paper

NM_001098816.3

p.D1554N

c.4660G>A

1 paper

NM_001098816.3

p.R1559Q

c.4676G>A

1 paper

NM_001098816.3

p.H1464H

c.4392C>T

1 paper

NM_001098816.3

p.R1561W

c.4681C>T

1 paper

NM_001098816.3

p.R1561Q

c.4682G>A