Varaico: Literature-Extracted Genetic Variants

Gene:TENM4
Variant:p.M1288T

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.M1288T
c.3863T>C
Surrounding Variants
1 paper
NM_001098816.3
p.D1286N
c.3856G>A
1 paper
NM_001098816.3
p.R1300W
c.3898C>T
1 paper
NM_001098816.3
p.R1300Q
c.3899G>A
1 paper
NM_001098816.3
p.S1318C
c.3953C>G
1 paper
NM_001098816.3
p.D1338N
c.4012G>A
1 paper
NM_001098816.3
p.S1274Splc
c.3822-3782G>T
1 paper
NM_001098816.3
p.K1357R
c.4070A>G
11 papers
NM_001098816.3
p.T1367N
c.4100C>A
1 paper
NM_001098816.3
p.M1368T
c.4103T>C
1 paper
NM_001098816.3
p.R1371C
c.4111C>T
1 paper
NM_001098816.3
p.G1376E
c.4127G>A
2 papers
NM_001098816.3
p.R1391W
c.4171C>T
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