Varaico: Literature-Extracted Genetic Variants

Gene:KRT32
Variant:p.S222Y
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KRT32

NM_002278.3:p.S222Y

Associated Papers

Loss-of-function mutations in Keratin 32 gene disrupt skin immune homeostasis in pityriasis rubra pilaris.

Shi P et al.

Nature Communications, 2024

ACE Phenotyping in Human Blood and Tissues: Revelation of ACE Outliers and Sex Differences in ACE Sialylation.

Enyedi EE et al.

Biomedicines, 2024

38790902 (PubMed )
Supplement: biomedicines-12-00940-s001.zip › biomedicines-2930173-supplementary.pdf

Whole-exome sequencing identifies multiple pathogenic variants in a large South Indian family with primary open-angle glaucoma.

Shah MH et al.

Indian Journal of Ophthalmology, 2021

A synergetic effect of BARD1 mutations on tumorigenesis.

Li W et al.

Nature Communications, 2021

33623049 (PubMed )
Supplement: 41467_2021_21519_MOESM5_ESM.xlsx › sheet1

Demonstration of Protein-Based Human Identification Using the Hair Shaft Proteome.

Parker GJ et al.

Plos One, 2016

27603779 (PubMed )
Supplement: pone.0160653.s004.pdf

Genome Analysis of Osteosarcoma Progression Samples Identifies FGFR1 Overexpression as a Potential Treatment Target and CHM as a Candidate Tumor Suppressor Gene.

Barøy T et al.

Plos One, 0

27685995 (PubMed )
Supplement: pone.0163859.s005.xlsx › OS106
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