Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 27 variants

NM_020905.4

p.M41R

c.122T>G

NM_020905.4

p.M1T

c.2T>C

NM_020905.4

p.R28fs

c.82_83fs

NM_020905.4

p.Q30K

c.88C>A

NM_020905.4

p.R34K

c.101G>A

NM_020905.4

p.P38insFs

c.114dupC

NM_020905.4

p.G39fs

c.115_116fs

NM_020905.4

p.R65H

c.194G>A

NM_020905.4

p.A84E

c.251C>A

NM_020905.4

p.E96K

c.286G>A

NM_020905.4

p.G98V

c.293G>T

NM_020905.4

p.L114_D115insC

c.340_344ins3