Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 40 variants

NM_001379301.1

p.E92A

c.275A>C

NM_001379301.1

p.S46L

c.137C>T

NM_001379301.1

p.E47A

c.140A>C

NM_001379301.1

p.L102I

c.304C>A

NM_001379301.1

p.H18P

c.53A>C

NM_001379301.1

p.Y35Y

c.105T>C

NM_001379301.1

p.C45F

c.134G>T

NM_001379301.1

p.K59delFs

c.175delA

NM_001379301.1

p.K59fs

c.175_176fs

NM_001379301.1

p.Y60H

c.178T>C

NM_001379301.1

p.L66P

c.197T>C

NM_001379301.1

p.L66L

c.198C>A