Varaico: Literature-Extracted Genetic Variants

Gene:MTHFR
Variant:p.P202S
Back to variants list

MTHFR

NM_005957.5:p.P202S

Associated Papers

The use of orthologous sequences to predict the impact of amino acid substitutions on protein function.

Marini NJ et al.

Plos Genetics, 2010

Intermediate hyperhomocysteinaemia and compound heterozygosity for the common variant c.677C>T and a MTHFR gene mutation.

Rummel T et al.

Journal of Inherited Metabolic Disease, 2007

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."