Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 25 variants

NM_001395496.1

p.R4*

c.10C>T

NM_001395496.1

p.K366insFs

c.1096_1097dupAA

NM_001395496.1

p.M367fs

c.1099_1100fs

NM_001395496.1

p.M1fs

c.1_2fs

NM_001395496.1

p.T9_R10Splc

c.27+1G>A

NM_001395496.1

p.S26F

c.77C>T

NM_001395496.1

p.Y39*

c.117T>A

NM_001395496.1

p.Y39*

c.117T>G

NM_001395496.1

p.A44P

c.130G>C

NM_001395496.1

p.E94K

c.280G>A

NM_001395496.1

p.K104_P105Splc

c.312+3A>G

NM_001395496.1

p.V113A

c.338T>C