Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 426 variants

NM_000250.2

p.R569W

c.1705C>T

NM_000250.2

p.M251T

c.752T>C

NM_000250.2

p.R677Splc

c.2031-2A>C

NM_000250.2

p.Y173C

c.518A>G

NM_000250.2

p.A332V

c.995C>T

NM_000250.2

p.G501S

c.1501G>A

NM_000250.2

p.F508del1

c.1522_1523delGAA

NM_000250.2

p.I717V

c.2149A>G

NM_000250.2

p.V53F

c.157G>T

NM_000250.2

p.T214T

c.642G>A

NM_000250.2

p.R604C

c.1810C>T

NM_000250.2

p.R499C

c.1495C>T