Varaico: Literature-Extracted Genetic Variants

Gene:KIAA1671
Variant:p.R644L
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KIAA1671

NM_001145206.2:p.R644L

Associated Papers

Common origin and somatic mutation patterns of composite lymphomas and leukemias.

Berg V et al.

Leukemia, 2025

40404986 (PubMed )
Supplement: 41375_2025_2549_MOESM2_ESM.xlsx › 4_FL

A Stop-gain Variant c.220C>T (p.(Gln74*)) in FLNB Segregates with Spondylocarpotarsal Synostosis Syndrome in a Consanguineous Family.

Shahid H et al.

The Yale Journal of Biology and Medicine, 2023

37781000 (PubMed )
Supplement: yjbm_96_3_383_appendixA.xlsx › Appendix_A

Cathepsin B p.Gly284Val Variant in Parkinson's Disease Pathogenesis.

Milanowski LM et al.

International Journal of Molecular Sciences, 2022

35806091 (PubMed )
Supplement: ijms-23-07086-s001.zip › Supplementary_Table_S1.xlsx › Heterozygotes

Integrated genomic analysis reveals mutated ELF3 as a potential gallbladder cancer vaccine candidate.

Pandey A et al.

Nature Communications, 2020

32839463 (PubMed )
Supplement: 41467_2020_17880_MOESM13_ESM.xlsx › Predicted_Neoantigens
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