Varaico: Literature-Extracted Genetic Variants

Gene:TENM4
Variant:p.D1164D

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
2 papers
NM_001098816.3
p.D1164D
c.3492C>T
Surrounding Variants
1 paper
NM_001098816.3
p.A1165T
c.3493G>A
4 papers
NM_001098816.3
p.I1163T
c.3488T>C
1 paper
NM_001098816.3
p.G1170R
c.3508G>C
1 paper
NM_001098816.3
p.G1170R
c.3508G>A
1 paper
NM_001098816.3
p.R1154_T1155ins5
c.3460_3464ins15
1 paper
NM_001098816.3
p.S1144P
c.3430T>C
1 paper
NM_001098816.3
p.V1138_G1139ins6
c.3412_3416ins18
7 papers
NM_001098816.3
p.V1138M
c.3412G>A
1 paper
NM_001098816.3
p.L1131R
c.3392T>G
1 paper
NM_001098816.3
p.Q1198R
c.3593A>G
1 paper
NM_001098816.3
p.V1128M
c.3382G>A
1 paper
NM_001098816.3
p.I1117I
c.3351T>C
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