Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

NM_020367.6

p.F48S

c.143T>C

NM_020367.6

p.P6_E7Splc

c.19-15231G>A

NM_020367.6

p.H46Y

c.136C>T

NM_020367.6

p.R102C

c.304C>T

NM_020367.6

p.R102H

c.305G>A

NM_020367.6

p.P126L

c.377C>T

NM_020367.6

p.W129G

c.385T>G

NM_020367.6

p.R165*

c.493C>T

NM_020367.6

p.N224S

c.671A>G

NM_020367.6

p.R246S

c.736C>A

NM_020367.6

p.K300I

c.899A>T

NM_020367.6

p.Y333delFs

c.997delA