Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 41 variants

NM_004623.5

p.S47T

c.139T>A

NM_004623.5

p.M1delFs

c.2delT

NM_004623.5

p.S16S

c.48G>C

NM_004623.5

p.E76delFs

c.227delA

NM_004623.5

p.Q78delFs

c.232_233delCA

NM_004623.5

p.Y82C

c.245A>G

NM_004623.5

p.Y102delFs

c.305delA

NM_004623.5

p.K107*

c.319A>T

NM_004623.5

p.L119F

c.355C>T

NM_004623.5

p.N122S

c.365A>G

NM_004623.5

p.R134_A142delFs

c.400_425del26

NM_004623.5

p.R134fs

c.400_401fs