KEGG VARIANT: 84876v2

VARIANT: 84876v2

Entry

84876v2                      Variant

Name

ORAI1 gain-of-function mutation

Type

Gain of function

Gene

ORAI1 ORAI calcium release-activated calcium modulator 1 [KO:K16056]

Organism

hsa_var Human gene variants (Homo sapiens)

Variation

mutations
OmimVar: 610277

Network

nt06528 Calcium signaling

Disease

H02258

Tubular aggregate myopathy

Reference

PMID:33250786

Authors

Silva-Rojas R, Laporte J, Bohm J

Title

STIM1/ORAI1 Loss-of-Function and Gain-of-Function Mutations Inversely Impact on SOCE and Calcium Homeostasis and Cause Multi-Systemic Mirror Diseases.

Journal

Front Physiol 11:604941 (2020)
DOI:10.3389/fphys.2020.604941

Reference

PMID:24591628

Authors

Nesin V, Wiley G, Kousi M, Ong EC, Lehmann T, Nicholl DJ, Suri M, Shahrizaila N, Katsanis N, Gaffney PM, Wierenga KJ, Tsiokas L

Title

Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis.

Journal

Proc Natl Acad Sci U S A 111:4197-202 (2014)
DOI:10.1073/pnas.1312520111

LinkDB

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