Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 13 variants

NM_001286045.2

p.P79R

c.236C>G

NM_001286045.2

p.F54L

c.160T>C

NM_001286045.2

p.F54L

c.162T>A

NM_001286045.2

p.F54L

c.162T>G

NM_001286045.2

p.Y65F

c.194A>T

NM_001286045.2

p.N68K

c.204T>A

NM_001286045.2

p.N68K

c.204T>G

NM_001286045.2

p.S111C

c.332C>G

NM_001286045.2

p.V147E

c.440T>A

NM_001286045.2

p.Q154delFs

c.461delA

NM_001286045.2

p.M155fs

c.463_464fs

NM_001286045.2

p.S185C

c.554C>G