KEGG   VARIANT: 3071v1
Entry
3071v1                      Variant                                
Name
NCKAP1L mutation
Type
Loss of function
Gene
NCKAP1L  nck-associated protein 1-like isoform 1 [KO:K05750]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 141180
Network
nt06549  Cadherin signaling
Disease
H02526  Disorders of adaptive immunity
Reference
  Authors
Cook SA, Comrie WA, Poli MC, Similuk M, Oler AJ, Faruqi AJ, Kuhns DB, Yang S, Vargas-Hernandez A, Carisey AF, Fournier B, Anderson DE, Price S, Smelkinson M, Abou Chahla W, Forbes LR, Mace EM, Cao TN, Coban-Akdemir ZH, Jhangiani SN, Muzny DM, Gibbs RA, Lupski JR, Orange JS, Cuvelier GDE, Al Hassani M, Al Kaabi N, Al Yafei Z, Jyonouchi S, Raje N, Caldwell JW, Huang Y, Burkhardt JK, Latour S, Chen B, ElGhazali G, Rao VK, Chinn IK, Lenardo MJ
  Title
HEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory disease.
  Journal
Science 369:202-207 (2020)
DOI:10.1126/science.aay5663
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