Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 167 variants

NM_194250.2

p.G545S

c.1633G>A

NM_194250.2

p.T707K

c.2120C>A

NM_194250.2

p.E542K

c.1624G>A

NM_194250.2

p.Q261L

c.782A>T

NM_194250.2

p.I492V

c.1474A>G

NM_194250.2

p.N696delins

c.2088delinsCACA

NM_194250.2

p.H747R

c.2240A>G

NM_194250.2

p.L1081V

c.3241C>G

NM_194250.2

p.I370L

c.1108A>T

NM_194250.2

p.D479G

c.1436A>G

NM_194250.2

p.L992P

c.2975T>C

NM_194250.2

p.A1108T

c.3322G>A