Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 409 variants

NM_000380.4

p.R228*

c.682C>T

NM_000380.4

p.R130Splc

c.390-1G>C

NM_000380.4

p.R207*

c.619C>T

NM_000380.4

p.R228Q

c.683G>A

NM_000380.4

p.E111*

c.331G>T

NM_000380.4

p.H244R

c.731A>G

NM_000380.4

p.A2T

c.4G>A

NM_000380.4

p.Q185_I186Splc

c.555+8A>G

NM_000380.4

p.Q185H

c.555G>C

NM_000380.4

p.R211*

c.631C>T

NM_000380.4

p.R258_T262delFs

c.772_785del14

NM_000380.4

p.C108F

c.323G>T