Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 21 variants

NM_001317785.2

p.H121R

c.362A>G

NM_001317785.2

p.P311A

c.931C>G

NM_001317785.2

p.S246C

c.737C>G

NM_001317785.2

p.Q18*

c.52C>T

NM_001317785.2

p.Y30C

c.89A>G

NM_001317785.2

p.R37C

c.109C>T

NM_001317785.2

p.Y112N

c.334T>A

NM_001317785.2

p.S135*

c.404C>G

NM_001317785.2

p.S135*

c.404C>A

NM_001317785.2

p.L141F

c.421C>T

NM_001317785.2

p.P165L

c.494C>T

NM_001317785.2

p.K167N

c.501G>T