Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 15 variants

NM_001030013.2

p.S3Splc

c.8+5A>G

NM_001030013.2

p.S3Splc

c.9-1G>C

NM_001030013.2

p.S14L

c.41C>T

NM_001030013.2

p.T17T

c.51A>T

NM_001030013.2

p.M18L

c.52A>T

NM_001030013.2

p.H19Q

c.57T>A

NM_001030013.2

p.W22L

c.65G>T

NM_001030013.2

p.V31E

c.92T>A

NM_001030013.2

p.V31V

c.93G>A

NM_001030013.2

p.Y37F

c.110A>T

NM_001030013.2

p.L39delFs

c.115delC

NM_001030013.2

p.L58R

c.173T>G