Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 35 variants

NM_001323368.2

p.I113M

c.339A>G

NM_001323368.2

p.Q252_K253Splc

c.757-1G>C

NM_001323368.2

p.M1R

c.2T>G

NM_001323368.2

p.L5_V6insG

c.13_17ins3

NM_001323368.2

p.V18I

c.52G>A

NM_001323368.2

p.V28fs

c.82_83fs

NM_001323368.2

p.R38W

c.112C>T

NM_001323368.2

p.I42delFs

c.124delA

NM_001323368.2

p.I42fs

c.124_125fs

NM_001323368.2

p.P49L

c.146C>T

NM_001323368.2

p.Q59*

c.175C>T

NM_001323368.2

p.R70K

c.209G>A