Varaico: Literature-Extracted Genetic Variants

Gene:TENM4
Variant:p.D1646H

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.D1646H
c.4936G>C
Surrounding Variants
1 paper
NM_001098816.3
p.T1653I
c.4958C>T
1 paper
NM_001098816.3
p.R1633L
c.4898G>T
2 papers
NM_001098816.3
p.R1632H
c.4895G>A
1 paper
NM_001098816.3
p.E1669K
c.5005G>A
1 paper
NM_001098816.3
p.M1673I
c.5019G>T
1 paper
NM_001098816.3
p.M1673I
c.5019G>C
1 paper
NM_001098816.3
p.M1673I
c.5019G>A
1 paper
NM_001098816.3
p.G1616C
c.4846G>T
1 paper
NM_001098816.3
p.D1615D
c.4845C>T
1 paper
NM_001098816.3
p.T1613N
c.4838C>A
1 paper
NM_001098816.3
p.T1611S
c.4832C>G
1 paper
NM_001098816.3
p.T1611S
c.4831A>T
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