Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 65 variants

NM_001297732.2

p.D223H

c.667G>C

NM_001297732.2

p.L16P

c.47T>C

NM_001297732.2

p.R4W

c.10C>T

NM_001297732.2

p.S62delFs

c.185delG

NM_001297732.2

p.L72R

c.215T>G

NM_001297732.2

p.A110P

c.328G>C

NM_001297732.2

p.R145Splc

c.435-6A>G

NM_001297732.2

p.A200T

c.598G>A

NM_001297732.2

p.R298P

c.893G>C

NM_173827.4

p.R297P

c.890G>C

NM_001300729.1

p.R305H

c.914G>A

NM_001297732.2

p.L2_L5del0

c.4_15del12