Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 40 variants

NM_001242409.2

p.K291R

c.872A>G

NM_001242409.2

p.G41Splc

c.122-8528C>T

NM_001242409.2

p.E42K

c.124G>A

NM_001242409.2

p.R48Q

c.143G>A

NM_001242409.2

p.L69*

c.206T>A

NM_001242409.2

p.Y74C

c.221A>G

NM_001242409.2

p.G77E

c.230G>A

NM_001242409.2

p.Y105F

c.314A>T

NM_001242409.2

p.R173L

c.518G>T

NM_001242409.2

p.P196L

c.587C>T

NM_001242409.2

p.S210R

c.628A>C

NM_001242409.2

p.S210R

c.630C>G