Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 116 variants

NM_001378068.1

p.K1020_D1021delFs

c.3058_3061del4

NM_001378068.1

p.L1077F

c.3231G>C

NM_001378068.1

p.L1077F

c.3231G>T

NM_001378068.1

p.K191T

c.572A>C

NM_001378068.1

p.I675V

c.2023A>G

NM_001378068.1

p.P1095H

c.3284C>A

NM_001378068.1

p.A33_F34insFs

c.99_100insT

NM_001378068.1

p.Q128H

c.384G>C

NM_001378068.1

p.Q128H

c.384G>T

NM_001378068.1

p.K558R

c.1673A>G

NM_001378068.1

p.C623Y

c.1868G>A

NM_001378068.1

p.I829M

c.2487A>G