Varaico: Literature-Extracted Genetic Variants

Gene:TENM4
Variant:p.Y1576*

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.Y1576*
c.4728T>G
Surrounding Variants
1 paper
NM_001098816.3
p.Y1576*
c.4728T>A
1 paper
NM_001098816.3
p.Q1584R
c.4751A>G
1 paper
NM_001098816.3
p.R1561Q
c.4682G>A
1 paper
NM_001098816.3
p.R1561W
c.4681C>T
1 paper
NM_001098816.3
p.R1559Q
c.4676G>A
1 paper
NM_001098816.3
p.D1554N
c.4660G>A
1 paper
NM_001098816.3
p.V1552M
c.4654G>A
1 paper
NM_001098816.3
p.L1601L
c.4803G>T
1 paper
NM_001098816.3
p.D1547Y
c.4639G>T
1 paper
NM_001098816.3
p.A1543S
c.4627G>T
1 paper
NM_001098816.3
p.T1611S
c.4831A>T
1 paper
NM_001098816.3
p.T1611S
c.4832C>G
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