Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 144 variants

NM_000693.4

p.R89C

c.265C>T

NM_000693.4

p.A493P

c.1477G>C

NM_000693.4

p.K389*

c.1165A>T

NM_000693.4

p.K190*

c.568A>T

NM_000693.4

p.G237R

c.709G>A

NM_000693.4

p.G237R

c.709G>C

NM_000693.4

p.V71M

c.211G>A

NM_000693.4

p.R96H

c.287G>A

NM_000693.4

p.D159Splc

c.475+1G>T

NM_000693.4

p.I369F

c.1105A>T

NM_000693.4

p.A145V

c.434C>T

NM_000693.4

p.K190E

c.568A>G