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30813 VSX1

30813

VSX1

visual system homeobox 1

protein-coding

Homo sapiens

基因描述

Type Description
Definition visual system homeobox 1

研究结论

Date Results Publications
2019-06-22 11:56:00 Sequence variants of the VSX1 gene were identified for the first time in Chinese patients with sporadic keratoconus 29518881
2019-06-15 12:50:00 VSX1 is involved in keratoconus and other corneal pathologies 30574758
2017-12-09 13:27:00 In this study, we added one novel missense sequence variation (p.Arg131Pro) in the coding region of the VSX1 gene to the range of VSX1 coding region variations observed in patients with sporadic keratoconus from China. 28950846
2017-03-04 12:08:00 The aim of this study was to screen the visual system homeobox 1 (VSX1) gene in Turkish patients with keratoconus 27819732
2016-04-02 11:27:00 We cannot confirm the previously reported association of the polymorphism in the VSX1 gene with keratoconus (KC). Our results suggest a possible causative role of SOD1 in the pathogenesis of KC. 24099280

名称对应

Type IDs
Synonymous CAASDS, KTCN, KTCN1, PPCD, PPCD1, PPD, RINX
Gene
UniProtKB-ID: VSX1_HUMAN
UniprotKB: Q9NZR4
UniParc: UPI0000206B50, UPI000002B6D8, UPI0000138E43, UPI0000DD5362, UPI000002B6D7, UPI0000DD5361, UPI000002B6D6, UPI0000DD5363
EMBL: DQ854807, DQ854809, AF176797, AL080312, AF251033, BC136497, GU138372, DQ854808, DQ854811, AF251034, DQ854810, DQ854812, BC126228
Ensembl: ENSG00000100987
KO: hsa:30813
Nucleutide sequences
EMBL-CDS: ABI23975.1, AAI26229.1, AAF99657.1, AAF37425.2, ABI23974.1, ABI23973.1, ABI23978.1, ABI23976.1, AAF99656.1, AAI36498.1, ACZ01961.1, ABI23977.1
Ensembl_TRS: ENST00000376707, ENST00000444511, ENST00000429762, ENST00000409285, ENST00000376709, ENST00000409958
Protein sequencees
Ensembl_PRO: ENSP00000365897, ENSP00000387069, ENSP00000401690, ENSP00000387720, ENSP00000365899, ENSP00000386612
RefSeq: NP_055403.2, NP_001243201.1, NP_001243200.1, XP_016883326.1, NP_955457.1, XP_016883327.1, NP_001365562.1
Others
UniRef100: UniRef100_Q9NZR4
UniRef90: UniRef90_Q9NZR4
UniRef50: UniRef50_Q9NZR4
UniGene: Hs.274264
CCDS: CCDS13169.1, CCDS58766.1, CCDS13168.1, CCDS58767.1

全选

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