Varaico: Literature-Extracted Genetic Variants

Gene:TENM4
Variant:p.S1073insFs

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.S1073insFs
c.3218_3219insG
Surrounding Variants
1 paper
NM_001098816.3
p.T1080I
c.3239C>T
1 paper
NM_001098816.3
p.S1065R
c.3195C>G
1 paper
NM_001098816.3
p.S1065R
c.3195C>A
1 paper
NM_001098816.3
p.S1065R
c.3193A>C
1 paper
NM_001098816.3
p.S1055C
c.3164C>G
1 paper
NM_001098816.3
p.A1096A
c.3288G>A
1 paper
NM_001098816.3
p.E1098G
c.3293A>G
1 paper
NM_001098816.3
p.A1107fs
c.3319_3320fs
1 paper
NM_001098816.3
p.A1107delFs
c.3319_3320delGC
1 paper
NM_001098816.3
p.I1117I
c.3351T>C
1 paper
NM_001098816.3
p.V1128M
c.3382G>A
1 paper
NM_001098816.3
p.L1131R
c.3392T>G
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