| Type | Description |
|---|---|
| Definition | mevalonate kinase |
| Date | Results | Publications |
|---|---|---|
| 2020-10-24 14:11:00 | Spectrum of clinical features and genetic variants in mevalonate kinase (MVK) gene of South Indian families suffering from Hyperimmunoglobulin D Syndrome. | 32822427 |
| 2020-10-10 12:59:00 | Defective Protein Prenylation in a Spectrum of Patients With Mevalonate Kinase Deficiency. | 31474985 |
| 2020-09-26 13:01:00 | Novel mutations in mevalonate kinase cause disseminated superficial actinic porokeratosis. | 30597534 |
| 2020-06-06 13:33:00 | Patients with disseminated superficial actinic porokeratosis (DSAP) and linear porokeratosis (LP) exhibit monoallelic germline mutations in genes encoding mevalonate pathway enzymes, such as MVD or MVK | 31207227 |
| 2020-02-01 13:02:00 | In this study, we discussed the clinical effects of eight different variants we have detected in the MVK, TNFRSF1A and NLRP3 genes. Four of them were previously identified in patients with Periodic fever syndromes | 31135083 |
| Type | IDs |
|---|---|
| Synonymous | LRBP, MK, MVLK, POROK3 |
| Gene |
UniProtKB-ID:
KIME_HUMAN,
B7Z301_HUMAN,
F5H8H2_HUMAN,
B2RDU6_HUMAN
UniprotKB:
Q03426,
B7Z301,
F5H8H2,
B2RDU6
UniParc:
UPI000012DE5B,
UPI0000D4E9DD,
UPI0001914CB6
EMBL:
AK315678,
AF217534,
AF217533,
CH471054,
AF217532,
M88468,
AF217531,
AF217530,
KU178206,
X75311,
AF217529,
KU178205,
BC016140,
AK295338,
AC007570,
AF217528,
FJ515860,
AF217535
Ensembl:
ENSG00000110921
KO:
hsa:4598
|
| Nucleutide sequences |
EMBL-CDS:
CAA53059.1,
AAH16140.1,
AAB59362.1,
CAA53060.1,
AAF82407.1,
BAH12037.1,
ALQ33664.1,
ALQ33663.1,
EAW97873.1,
EAW97872.1,
ACS13750.1,
ACS13751.1,
BAG38043.1
Gene_ORFName:
hCG_40321
Ensembl_TRS:
ENST00000539575,
ENST00000228510,
ENST00000625889,
ENST00000392727
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000228510,
ENSP00000443551,
ENSP00000486846,
ENSP00000376487
RefSeq:
NP_000422.1,
NP_001288111.1,
XP_024304750.1,
XP_016874803.1,
XP_016874802.1,
NP_001107657.1
|
| Others |
UniRef100:
UniRef100_Q03426,
UniRef100_F5H8H2,
UniRef100_B7Z301
UniRef90:
UniRef90_Q03426,
UniRef90_F5H8H2
UniRef50:
UniRef50_Q03426,
UniRef50_P17256
UniGene:
Hs.130607
CCDS:
CCDS9132.1
|
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|---|---|---|---|---|---|---|---|---|
| Refseq |
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