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.P523R

c.1568C>G

Surrounding Variants

1 paper

NM_001098816.3

p.P523delFs

c.1569delG

1 paper

NM_001098816.3

p.S524fs

c.1570_1571fs

1 paper

NM_001098816.3

p.S525_H526del2

c.1573_1577del6

1 paper

NM_001098816.3

p.G519E

c.1556G>A

2 papers

NM_001098816.3

p.R518Q

c.1553G>A

1 paper

NM_001098816.3

p.W539S

c.1616G>C

4 papers

NM_001098816.3

p.E506Q

c.1516G>C

1 paper

NM_001098816.3

p.G547*

c.1639G>T

1 paper

NM_001098816.3

p.S487L

c.1460C>T

1 paper

NM_001098816.3

p.A474D

c.1421C>A

1 paper

NM_001098816.3

p.N467S

c.1400A>G

1 paper

NM_001098816.3

p.H460L

c.1379A>T