Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 264 variants

NM_000197.2

p.R80Q

c.239G>A

NM_000197.2

p.G289S

c.865G>A

NM_000197.2

p.N130S

c.389A>G

NM_000197.2

p.R80W

c.238C>T

NM_000197.2

p.S232L

c.695C>T

NM_000197.2

p.E215D

c.645A>T

NM_000197.2

p.E215D

c.645A>C

NM_000197.2

p.E93Splc

c.277+4A>T

NM_000197.2

p.A203V

c.608C>T

NM_000197.2

p.C268Y

c.803G>A

NM_000197.2

p.S65L

c.194C>T

NM_000197.2

p.V205E

c.614T>A