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9411 ARHGAP29

9411

ARHGAP29

Rho GTPase activating protein 29

protein-coding

Homo sapiens

基因描述

Type Description
Definition Rho GTPase activating protein 29

研究结论

Date Results Publications
2020-12-12 13:21:00 The SNP rs560426 Within ABCA4-ARHGAP29 Locus and the Risk of Nonsyndromic Oral Clefts. 31950859
2018-11-17 12:14:00 Risk haplotypes affect ARHGAP29 expression causing non-syndromic orofacial clefting. 28287101
2018-03-17 11:35:00 The variant in question segregates as an autosomal dominant trait caused by an heterozygous missense variant in ARHGAP29 (p.Ser552Pro) that had not previously been identified in a population genomic databases. The p.Ser552Pro ARHGAP29 variant was not present in genomic databases and was predicted to be pathogenic by multiple in silico programs. 28029220
2018-03-03 11:25:00 YAP promotes the expression of ARHGAP29 to suppress the RhoA-LIMK-cofilin pathway, destabilizing F-actin. 28538170
2017-06-03 10:55:00 The of loss-of-function and ARHGAP29 missense variants in the etiology of oral clefts 27350171

名称对应

Type IDs
Synonymous PARG1
Gene
UniProtKB-ID: RHG29_HUMAN
UniprotKB: Q52LW3
UniParc: UPI000013D0E4, UPI000006CE1D
EMBL: AB208873, BC022483, BC093767, AL162735, BC067839, U90920, BC093741, CH471097
Ensembl: ENSG00000137962
KO: hsa:9411
Nucleutide sequences
EMBL-CDS: BAD92110.1, AAH67839.1, EAW73051.1, AAB81012.1, AAH93767.1, AAH22483.1, EAW73052.1, AAH93741.1
Ensembl_TRS: ENST00000370217, ENST00000260526
Protein sequencees
Ensembl_PRO: ENSP00000359237, ENSP00000260526
RefSeq: NP_004806.3, NP_001315595.1, NP_001315593.1, NP_001315594.1, NP_001315596.1, XP_011540741.1
Others
UniRef100: UniRef100_Q52LW3
UniRef90: UniRef90_Q52LW3
UniRef50: UniRef50_Q52LW3
UniGene: Hs.483238
CCDS: CCDS748.1

全选

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