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RBP1 (Retinol-binding protein 1)
FEATURES
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FAMILY
DESCRIPTION
Also known as RET1_HUMAN, RBP1, CRBP1. Cytoplasmic retinol-binding protein (PubMed:22665496, PubMed:26900151, PubMed:28057518). Accepts retinol from the transport protein STRA6, and thereby contributes to retinol uptake, storage and retinoid homeostasis (PubMed:15632377, PubMed:22665496). Interacts (only as retinol-free apoprotein) with STRA6.
Also known as RET1_HUMAN, RBP1, CRBP1. Cytoplasmic retinol-binding protein (PubMed:22665496, PubMed:26900151, PubMed:28057518). Accepts retinol from the transport protein STRA6, and thereby contributes to retinol uptake, storage and retinoid homeostasis (PubMed:15632377, PubMed:22665496). Interacts (only as retinol-free apoprotein) with STRA6.
RBP1 logo

RBP1

Retinol-binding protein 1

Mutations

FILTERS

Mutation(s) distribution

Mutations table

Study NameMutation TypeSeveritySeq. Cons. ScorePrediction scorePositionAmino acid changeTCGA Patient ID
Uterine endometrial (UCEC) Stop retained variant LOW 0% 0% 136 Ter136Ter TCGA-BS-A0TA
Melanoma (SKCM) Missense variant MODERATE 0% 0% 134 Val134Met TCGA-EE-A3JD
Breast (BRCA) Missense variant MODERATE 0% 0% 130 Val130Ala TCGA-D8-A142
Papillary kidney (KIRP) Missense variant MODERATE 0% 0% 121 Arg121Thr TCGA-Y8-A8S0
Bladder (BLCA) Missense variant MODERATE 0% 0% 120 Met120Ile TCGA-DK-A3IV
Lung squamous (LUSC) Missense variant MODERATE 0% 0% 112 Glu112Gln TCGA-94-8491
Papillary kidney (KIRP) Missense variant MODERATE 0% 0% 107 Trp107Cys TCGA-P4-A5E7
Melanoma (SKCM) Missense variant MODERATE 0% 0% 103 Glu103Lys TCGA-EB-A42Z
Ovarian (OV) Frameshift variant HIGH 0% 0% 101 Glu101fs TCGA-13-1492
Ovarian (OV) Frameshift variant HIGH 0% 0% 101 Glu101fs TCGA-13-1492