Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 26 variants

NM_001330103.2

p.I127V

c.379A>G

NM_001330103.2

p.Y40C

c.119A>G

NM_001330103.2

p.Q45*

c.133C>T

NM_001330103.2

p.W72C

c.216G>T

NM_001330103.2

p.D94N

c.280G>A

NM_001330103.2

p.D130N

c.388G>A

NM_001330103.2

p.H139Y

c.415C>T

NM_001330103.2

p.A148E

c.443C>A

NM_001330103.2

p.Q174*

c.520C>T

NM_001330103.2

p.Q174E

c.520C>G

NM_001330103.2

p.D189G

c.566A>G

NM_001330103.2

p.V197L

c.589G>C