Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.Y491C
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FH

NM_000143.4:p.Y491C

Associated Papers

Targeted sequencing of FH-deficient uterine leiomyomas reveals biallelic inactivating somatic fumarase variants and allows characterization of missense variants.

Popp B et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2020

32612247 (PubMed )
Supplement: 41379_2020_596_MOESM2_ESM.xlsx › FH_BRAVO

The functional landscape of the human phosphoproteome.

Ochoa D et al.

Nature Biotechnology, 2020

31819260 (PubMed )
Supplement: EMS84831-supplement-Table_S5.xlsx › clinvar_data

Next-generation sequencing reveals somatic mutations that confer exceptional response to everolimus.

Lim SM et al.

Oncotarget, 2016

26859683 (PubMed )
Supplement: oncotarget-07-10547-s002.pdf
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