Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 115 variants

NM_001317950.2

p.P624L

c.1871C>T

NM_001317950.2

p.S1303P

c.3907T>C

NM_001317950.2

p.Q664*

c.1990C>T

NM_001317950.2

p.T688M

c.2063C>T

NM_001317950.2

p.R1119Q

c.3356G>A

NM_001317950.2

p.A414E

c.1241C>A

NM_001317950.2

p.Q1097R

c.3290A>G

NM_001317950.2

p.E784del1

c.2350_2352delCTC

NM_001317950.2

p.R1073*

c.3217C>T

NM_001317950.2

p.H1096P

c.3287A>C

NM_001317950.2

p.G14ins5

c.40_41ins15

NM_001317950.2

p.G14_L15insFs

c.42_43ins4