SWISSVAR
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1 protein found in SwissVar (7 variants)

with gene/protein name Q96Q11

Disclaimer: The query results are intended for research purposes only, not for clinical and diagnostic use.

Accession Entry name Disease Variants 3D mapping
(variant position)
Q96Q11 TRNT1_HUMAN sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay p.Thr154Ile
p.Met158Val
p.Leu166Ser
p.Arg190Ile
p.Ile223Thr
p.Ile326Thr
p.Lys416Glu







Q96Q11 TRNT1_HUMAN retinitis pigmentosa and erythrocytic microcytosis