Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 59 variants

NM_138501.6

p.P182L

c.545C>T

NM_138501.6

p.M1T

c.2T>C

NM_138501.6

p.L99P

c.296T>C

NM_138501.6

p.K163K

c.489G>A

NM_138501.6

p.P266L

c.797C>T

NM_138501.6

p.M1insFs

c.2dupT

NM_138501.6

p.K2N

c.6G>C

NM_138501.6

p.K2N

c.6G>T

NM_138501.6

p.E5Q

c.13G>C

NM_138501.6

p.E5_V6Splc

c.16-45C>G

NM_138501.6

p.E5_V6Splc

c.16-2A>G

NM_138501.6

p.D10A

c.29A>C