Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 14 variants

NM_001134848.2

p.E173V

c.518A>T

NM_001134848.2

p.L17P

c.50T>C

NM_001134848.2

p.K29_K30Splc

c.87+5G>A

NM_001134848.2

p.E46Fs

c.136delinsGAFs

NM_001134848.2

p.I62delFs

c.186delT

NM_001134848.2

p.G88Splc

c.262+77G>T

NM_001134848.2

p.Y111Y

c.333T>C

NM_001134848.2

p.V119A

c.356T>C

NM_001134848.2

p.E186del1

c.556_557delGAA

NM_001134848.2

p.E186delFs

c.557_558delAA

NM_001134848.2

p.L230V

c.688C>G

NM_001134848.2

p.I234delFs

c.701delT