Varaico: Literature-Extracted Genetic Variants

Gene:PAFAH1B1
Variant:p.W55R
Back to variants list

PAFAH1B1

NM_000430.4:p.W55R

Associated Papers

Structural Consequence of Non-Synonymous Single-Nucleotide Variants in the N-Terminal Domain of LIS1.

Choi HJ et al.

International Journal of Molecular Sciences, 2022

Mutation Edgotype Drives Fitness Effect in Human.

Ghadie M et al.

Frontiers in Bioinformatics, 2021

36303776 (PubMed )
Supplement: Table2.XLSX › _D__Lit-SI_pathMt_edgotype

Estimating dispensable content in the human interactome.

Ghadie M et al.

Nature Communications, 2019

31324802 (PubMed )
Supplement: 41467_2019_11180_MOESM6_ESM.xlsx › _D__IntAct-SI_disease_mut

LIS1 missense mutations cause milder lissencephaly phenotypes including a child with normal IQ.

Leventer RJ et al.

Neurology, 2001

Analysis of lissencephaly-causing LIS1 mutations.

Sapir T et al.

European Journal of Biochemistry, 1999

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."