Varaico: Literature-Extracted Genetic Variants

Gene:AKAP11
Variant:p.E902G
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AKAP11

NM_016248.4:p.E902G

Associated Papers

A Rare Variant in MDH2 (rs111879470) Is Associated with Predisposition to Recurrent Breast Cancer in an Extended High-Risk Pedigree.

Cannon-Albright LA et al.

Cancers, 2023

38136396 (PubMed )
Supplement: cancers-15-05851-s001.zip › cancers-2619236-supplementary_MDH2_V2.xlsx › Table_S1

Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families.

Zhou Y et al.

Bmc Medical Genetics, 2020

32682410 (PubMed )
Supplement: 12881_2020_1087_MOESM1_ESM.xlsx › HL2

Germline mutations in MAP3K6 are associated with familial gastric cancer.

Gaston D et al.

Plos Genetics, 2014

25340522 (PubMed )
Supplement: pgen.1004669.s004.xlsx › Sheet1
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."