Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 21 variants

NM_001135863.2

p.A94S

c.280G>T

NM_001135863.2

p.R105Splc

c.314+1G>A

NM_001135863.2

p.L195V

c.583C>G

NM_001135863.2

p.P219P

c.657T>C

NM_001135863.2

p.L43F

c.129G>C

NM_001135863.2

p.L43F

c.129G>T

NM_001135863.2

p.I47M

c.141A>G

NM_001135863.2

p.L51L

c.153G>T

NM_001135863.2

p.Q68delFs

c.202delC

NM_001135863.2

p.D121A

c.362A>C

NM_001135863.2

p.C158F

c.473G>T

NM_001135863.2

p.E159D

c.477A>C