YIF1B Chromosome 19

Yip1 interacting factor homolog B, membrane trafficking protein
6 variants 6 Health Risk

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What This Gene Does
Involved in endoplasmic reticulum to Golgi vesicle-mediated transport. Located in Golgi apparatus; endoplasmic reticulum; and endoplasmic reticulum-Golgi intermediate compartment. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
YIP superfamily
Locus Type
gene with protein product
Location
19q13.2
Ensembl
ENSG00000167645
Associated Conditions (2)
Kaya-Barakat-Masson syndrome
Inborn genetic diseases
Key Variants
All Variants (6)
RSID Category Clinical Significance Conditions
RS1969106432 Health Risk Pathogenic Kaya-Barakat-Masson syndrome, Kaya-Barakat-Masson syndrome
RS1969205627 Health Risk Pathogenic Kaya-Barakat-Masson syndrome, Kaya-Barakat-Masson syndrome
RS1969205933 Health Risk Pathogenic Kaya-Barakat-Masson syndrome, Kaya-Barakat-Masson syndrome
RS1969221767 Health Risk Pathogenic Kaya-Barakat-Masson syndrome, Inborn genetic diseases, Kaya-Barakat-Masson syndrome
RS564705275 Health Risk Pathogenic Kaya-Barakat-Masson syndrome, Kaya-Barakat-Masson syndrome
RS750308729 Health Risk Pathogenic Kaya-Barakat-Masson syndrome, Kaya-Barakat-Masson syndrome
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