Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 54 variants

NM_001308068.2

p.R375R

c.1125C>T

NM_001308068.2

p.P2insFs

c.6dupC

NM_001308068.2

p.G17S

c.49G>A

NM_001308068.2

p.V43L

c.127G>C

NM_001308068.2

p.V43L

c.127G>T

NM_001308068.2

p.V65I

c.193G>A

NM_001308068.2

p.M70L

c.208A>C

NM_001308068.2

p.M70L

c.208A>T

NM_001308068.2

p.T75P

c.223A>C

NM_001308068.2

p.E87*

c.259G>T

NM_001308068.2

p.R124C

c.370C>T

NM_001308068.2

p.E136fs

c.406_407fs