Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_001323087.2

p.P382S

c.1144C>T

Surrounding Variants

NM_001323087.2

p.S415Y

c.1244C>A

NM_001323087.2

p.E368K

c.1102G>A

NM_001323087.2

p.K325N

c.975G>C

NM_001323087.2

p.K325N

c.975G>T

NM_001323087.2

p.K448_P449Splc

c.1344+33T>G

NM_001323087.2

p.L323_L324Splc

c.969+2T>A

NM_001323087.2

p.R320K

c.959G>A

NM_001323087.2

p.D311H

c.931G>C

NM_001323087.2

p.K448_P449Splc

c.1345-308C>A

NM_001323087.2

p.V471I

c.1411G>A

NM_001323087.2

p.L489fs

c.1465_1466fs

NM_001323087.2

p.E491Q

c.1471G>C