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23025 UNC13A

23025

UNC13A

unc-13 homolog A

protein-coding

Homo sapiens

基因描述

Type Description
Definition unc-13 homolog A

研究结论

Date Results Publications
2020-12-19 13:38:00 The Distinct Traits of the UNC13A Polymorphism in Amyotrophic Lateral Sclerosis. 32627229
2020-04-04 12:41:00 rs12608932(C) is associated with increased ALS susceptibility, especially in Caucasian and European subjects, and that the CC genotype of rs12608932 is associated with reduced ALS patient survival. 31201598
2019-12-21 10:58:00 Its polymorphism contributes to frontotemporal disease in sporadic amyotrophic lateral sclerosis. 30368160
2017-10-28 12:08:00 This study demonstrated that the population specific rare variants of UNC13A may modulate survival in ALS in United kingdom. 27584932
2017-09-09 12:13:00 Synaptic UNC13A protein variant causes increased neurotransmission and dyskinetic movement disorder 28192369

名称对应

Type IDs
Synonymous Munc13-1
Gene
UniProtKB-ID: UN13A_HUMAN
UniprotKB: Q9UPW8
UniParc: UPI00006C19A7
EMBL: AB028955, AC008761
Ensembl: ENSG00000130477
KO: hsa:23025
Nucleutide sequences
EMBL-CDS: BAA82984.2
Ensembl_TRS: ENST00000519716
Protein sequencees
Ensembl_PRO: ENSP00000429562
RefSeq: NP_001073890.2, NP_001373951.1, XP_011526112.1, NP_001373952.1, XP_016881991.1, NP_001373950.1, XP_011526113.1
Others
UniRef100: UniRef100_Q9UPW8
UniRef90: UniRef90_Q62768
UniRef50: UniRef50_Q62768
UniGene: Hs.164502
CCDS: CCDS46013.2

全选

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研究热度

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