COPA
(
NM_004371.4
)
sequence variants
(AILJK, HEP-COP, alpha-COP)
Editor(s):
Marie-louise FRÉMOND
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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
LRG
LRG_1336
DNA
NC_000001.11
GRCh38.p13
ENSG00000122218
GRCh38.p13
NC_000001.10
GRCh37.p13
ENSG00000122218
GRCh37.p13
NG_050927.1
mRNA
NM_004371.4
ENST00000241704.8
CCDS
CCDS1202.1
Protein
NP_004362.2
ENSP00000241704.7
NCBI Gene
1314
OMIM Gene
601924
OMIM Disease
616414
Nomenclature
HGNC
PubMed of the initial paper:
COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis
Levi B Watkin & al
Variants review:
COPA syndrome, 5 years after: Where are we?
Frémond ML & al
Other links
:
MAP VIEW
ORPHANET: Orphan disease database