Type | Description |
---|---|
Definition | Rho GTPase activating protein 29 |
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 |
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
|
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Refseq |
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