Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 22 variants

NM_001355197.2

p.H537Q

c.1611C>A

NM_001355197.2

p.H537Q

c.1611C>G

NM_001355197.2

p.K538M

c.1613A>T

NM_001355197.2

p.Q66K

c.196C>A

NM_001355197.2

p.Q66*

c.196C>T

NM_001355197.2

p.R102insFs

c.305dupG

NM_001355197.2

p.C173F

c.518G>T

NM_001355197.2

p.F188L

c.562T>C

NM_001355197.2

p.F188L

c.564T>A

NM_001355197.2

p.F188L

c.564T>G

NM_001355197.2

p.A209V

c.626C>T

NM_001355197.2

p.R228W

c.682C>T