Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 77 variants

NM_001001957.2

p.E196D

c.588A>C

NM_001001957.2

p.E196D

c.588A>T

NM_001001957.2

p.M275T

c.824T>C

NM_001001957.2

p.M272K

c.815T>A

NM_001001957.2

p.R142W

c.424C>T

NM_001001957.2

p.R179C

c.535C>T

NM_001001957.2

p.V190I

c.568G>A

NM_001001957.2

p.K298insFs

c.893dupA

NM_001001957.2

p.R122W

c.364C>T

NM_001001957.2

p.V297fs

c.889_890fs

NM_001001957.2

p.K298fs

c.892_893fs

NM_001001957.2

p.A34V

c.101C>T