Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 71 variants

NM_001039479.2

p.S229fs

c.685_686fs

NM_001039479.2

p.R427C

c.1279C>T

NM_001039479.2

p.P779L

c.2336C>T

NM_001039479.2

p.G6Splc

c.17-28C>T

NM_001039479.2

p.L22F

c.64C>T

NM_001039479.2

p.A26A

c.78C>T

NM_001039479.2

p.R38R

c.114C>T

NM_001039479.2

p.E39G

c.116A>G

NM_001039479.2

p.V50M

c.148G>A

NM_001039479.2

p.C60F

c.179G>T

NM_001039479.2

p.P69S

c.205C>T

NM_001039479.2

p.R79*

c.235C>T