Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 48 variants

NM_001039362.2

p.N143D

c.427A>G

NM_001039362.2

p.E14A

c.41A>C

NM_001039362.2

p.V75M

c.223G>A

NM_001039362.2

p.V118M

c.352G>A

NM_001039362.2

p.V118L

c.352G>C

NM_001039362.2

p.V118L

c.352G>T

NM_001039362.2

p.S166delFs

c.497delG

NM_001039362.2

p.I168T

c.503T>C

NM_001039362.2

p.P298L

c.893C>T

NM_001039362.2

p.G308E

c.923G>A

NM_001039362.2

p.R312delFs

c.934_935delAG

NM_001039362.2

p.S400_N409del0

c.1199_1225del27