KEGG   VARIANT: 58528v1
Entry
58528v1                      Variant                               
Name
RRAGD mutation
Type
Gain of function
Gene
RRAGD  Ras related GTP binding D [KO:K16186]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 608268
Network
nt06522  mTOR signaling
Disease
H01210  Hypomagnesemia
Reference
  Authors
Schlingmann KP, Jouret F, Shen K, Nigam A, Arjona FJ, Dafinger C, Houillier P, Jones DP, Kleineruschkamp F, Oh J, Godefroid N, Eltan M, Guran T, Burtey S, Parotte MC, Konig J, Braun A, Bos C, Ibars Serra M, Rehmann H, Zwartkruis FJT, Renkema KY, Klingel K, Schulze-Bahr E, Schermer B, Bergmann C, Altmuller J, Thiele H, Beck BB, Dahan K, Sabatini D, Liebau MC, Vargas-Poussou R, Knoers NVAM, Konrad M, de Baaij JHF
  Title
mTOR-Activating Mutations in RRAGD Are Causative for Kidney Tubulopathy and Cardiomyopathy.
  Journal
J Am Soc Nephrol 32:2885-2899 (2021)
DOI:10.1681/ASN.2021030333
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