Varaico: Literature-Extracted Genetic Variants

Gene:TENM4
Variant:p.H460L

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.H460L
c.1379A>T
Surrounding Variants
1 paper
NM_001098816.3
p.D459Y
c.1375G>T
1 paper
NM_001098816.3
p.N467S
c.1400A>G
1 paper
NM_001098816.3
p.A474D
c.1421C>A
1 paper
NM_001098816.3
p.S487L
c.1460C>T
1 paper
NM_001098816.3
p.E427K
c.1279G>A
1 paper
NM_001098816.3
p.P426S
c.1276C>T
1 paper
NM_001098816.3
p.F424I
c.1270T>A
2 papers
NM_001098816.3
p.P421L
c.1262C>T
1 paper
NM_001098816.3
p.K420E
c.1258A>G
4 papers
NM_001098816.3
p.E506Q
c.1516G>C
2 papers
NM_001098816.3
p.R518Q
c.1553G>A
1 paper
NM_001098816.3
p.G519E
c.1556G>A
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