Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

NM_001145194.2

p.H54Q

c.162C>G

NM_001145194.2

p.H54Q

c.162C>A

NM_001145194.2

p.A4T

c.10G>A

NM_001145194.2

p.G6insFs

c.18dupT

NM_001145194.2

p.G10E

c.29G>A

NM_001145194.2

p.E12K

c.34G>A

NM_001145194.2

p.P13insFs

c.39dupT

NM_001145194.2

p.R44G

c.130A>G

NM_001145194.2

p.V59I

c.175G>A