Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 33 variants

NM_006954.2

p.H463Y

c.1387C>T

NM_006954.2

p.P556A

c.1666C>G

NM_006954.2

p.E84Splc

c.250+2433A>T

NM_006954.2

p.K116E

c.346A>G

NM_006954.2

p.D129N

c.385G>A

NM_006954.2

p.V130I

c.388G>A

NM_006954.2

p.K137E

c.409A>G

NM_006954.2

p.L155*

c.464T>A

NM_006954.2

p.D168G

c.503A>G

NM_006954.2

p.E226_T227delFs

c.676_680del5

NM_006954.2

p.N245K

c.735T>A

NM_006954.2

p.P269P

c.807G>A