Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 88 variants

NM_001349278.2

p.T313I

c.938C>T

NM_001349278.2

p.M1I

c.3G>T

NM_001349278.2

p.M1insFs

c.2dupT

NM_001349278.2

p.M1I

c.3G>C

NM_001349278.2

p.M1I

c.3G>A

NM_001349278.2

p.P24L

c.71C>T

NM_001349278.2

p.R72Q

c.215G>A

NM_001349278.2

p.L75L

c.223T>C

NM_001349278.2

p.A128V

c.383C>T

NM_001349278.2

p.L141_H142delFs

c.423_424delGT

NM_001349278.2

p.G214Splc

c.640+10T>G

NM_001349278.2

p.K234*

c.700A>T