Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 15 variants

NM_001123392.4

p.Q13R

c.38A>G

NM_001123392.4

p.Q129K

c.385C>A

NM_001123392.4

p.L196F

c.588G>T

NM_001123392.4

p.L196F

c.588G>C

NM_001123392.4

p.G276W

c.826G>T

NM_001123392.4

p.R396W

c.1186C>T

NM_001123392.4

p.P398L

c.1193C>T

NM_001123392.4

p.P406L

c.1217C>T

NM_001123392.4

p.A495Fs

c.1485delinsCTFs

NM_001123392.4

p.E496*

c.1486G>T

NM_001123392.4

p.H497Q

c.1491C>G

NM_001123392.4

p.H497Q

c.1491C>A