Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 34 variants

NM_001145664.2

p.Q53L

c.158A>T

NM_001145664.2

p.L161V

c.481T>G

NM_001145664.2

p.L176V

c.526C>G

NM_001145664.2

p.M412T

c.1235T>C

NM_001145664.2

p.M1K

c.2T>A

NM_001145664.2

p.N15K

c.45C>G

NM_001145664.2

p.N15K

c.45C>A

NM_001145664.2

p.F22C

c.65T>G

NM_001145664.2

p.K24_C25Splc

c.73-2A>C

NM_001145664.2

p.P30P

c.90G>A

NM_001145664.2

p.S38F

c.113C>T

NM_001145664.2

p.Y57F

c.170A>T