NLRC4
(
NM_001199138.2
)
sequence variants
(CLAN, IPAF, CLAN1, CLANA, CLANB, CLANC, CLAND, CARD12, CLR2.1)
Editor(s):
Guilaine BOURSIER
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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_1317
DNA
NC_000002.12
GRCh38
ENSG00000091106
GRCh38
NC_000002.11
GRCh37
ENSG00000091106
GRCh37
NG_041780.1
mRNA
NM_001199138.2
CCDS
CCDS33174.1
Protein
NP_001186067.1
NCBI Gene
58484
OMIM Gene
612374
OMIM Disease
616050
616115
Nomenclature
HGNC
PubMed of the initial paper:
Mutation of
NLRC4
causes a syndrome of enterocolitis and autoinflammation.
Romberg N & al
An activating
NLRC4
inflammasome mutation causes autoinflammation with recurrent macrophage activation syndrome.
Canna SW & al
Variants review:
NLRC4
GOF Mutations, a Challenging Diagnosis from Neonatal Age to Adulthood
Bardet J & al
Other links:
MAP VIEW
ORPHANET: Orphan disease database
ORPHANET: Orphan disease database