UBA1
(
NM_003334.4
)
sequence variants
(A1S9, A1ST, GXP1, UBE1, A1S9T, AMCX1, POC20, SMAX2, UBA1A, UBE1X, CFAP124)
Editor(s):
David BECK
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A to H
genes
ADA2
ADAM17
ALPK1
AP1S3
CARD14
CDC42
CEBPE
COPA
ELF4
F12
HCK
I to L
genes
IKBKG
IL1R1
IL1RN
IL36RN
LACC1
LPIN2
LYN
M to O
genes
MEFV
MVK
NCSTN
NLRC4
NLRP1
NLRP12
NLRP3
NLRP7
NOD2
OTULIN
P to Q
genes
PLCG1
PLCG2
POMP
PSMA3
PSMB10
PSMB4
PSMB8
PSMB9
PSMG2
PSTPIP1
R to S
genes
RBCK1
RELA
RIPK1
SAMD9L
SH3BP2
SLC29A3
STING1
T to Z
genes
TNFAIP3
TNFRSF11A
TNFRSF1A
TRAP1
TRNT1
UBA1
WDR1
Close
A to H genes
ADA2
ADAM17
ALPK1
AP1S3
CARD14
CDC42
CEBPE
COPA
ELF4
F12
HCK
I to L genes
IKBKG
IL1R1
IL1RN
IL36RN
LACC1
LPIN2
LYN
M to O genes
MEFV
MVK
NCSTN
NLRC4
NLRP1
NLRP12
NLRP3
NLRP7
NOD2
OTULIN
P to Q genes
PLCG1
PLCG2
POMP
PSMA3
PSMB10
PSMB4
PSMB8
PSMB9
PSMG2
PSTPIP1
R to S genes
RBCK1
RELA
RIPK1
SAMD9L
SH3BP2
SLC29A3
STING1
T to Z genes
TNFAIP3
TNFRSF11A
TNFRSF1A
TRAP1
TRNT1
UBA1
WDR1
General web sites
DNA
NC_000023.11
GRCh38.p13
ENSG00000130985
GRCh38.p13
NC_000023.10
GRCh37.p13
ENSG00000130985
GRCh37.p13
NG_009161.1
mRNA
NM_003334.4
ENST00000335972.11
CCDS
CCDS14275.1
Protein
NP_003325.2
ENSP00000338413.6
NCBI Gene
7317
OMIM Gene
314370
OMIM Disease
301054
Nomenclature
HGNC
PubMed of the initial paper:
Somatic Mutations in
UBA1
and Severe Adult-Onset Autoinflammatory Disease
Beck DB & al
Other links
:
MAP VIEW
ORPHANET: Orphan disease database