PMID: 29419487

Genetically engineered pigs as models for human disease.

Disease models & mechanisms
C Perleberg, A Kind, A Schnieke
2018-01-22

9 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
14-73640373-G-C PSEN1 c.438G>C p.Met146Ile Missense 5/12 -
14-73640373-G-T PSEN1 c.438G>T p.Met146Ile Missense 5/12 -
11-2181128-C-T INS c.287G>A p.Cys96Tyr Missense 3/3 -
14-73640373-G-A PSEN1 c.438G>A p.Met146Ile Missense 5/12 -
21-27269938-T-G APP c.2011A>C p.Met671Leu Missense 16/18 -
21-27269938-T-A APP c.2011A>T p.Met671Leu Missense 16/18 -
12-25380286-T-C KRAS c.172A>G p.Thr58Ala Missense 3/6 -
1-55523127-G-T PCSK9 c.1120G>T p.Asp374Tyr Missense 7/12 -
12-25368444-TCT-CAT KRAS c.499_501delAGAinsCAT p.Arg167His Missense 5/6 -