Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 22 variants

NM_001290030.2

p.L162R

c.485T>G

NM_001290030.2

p.H23D

c.67C>G

NM_001290030.2

p.V24V

c.72C>G

NM_001290030.2

p.G43R

c.127G>A

NM_001290030.2

p.G43R

c.127G>C

NM_001290030.2

p.A50insFs

c.148_149insGC

NM_001290030.2

p.A50fs

c.148_149fs

NM_001290030.2

p.R51P

c.152G>C

NM_001290030.2

p.A53P

c.157G>C

NM_001290030.2

p.T58P

c.172A>C

NM_001290030.2

p.R59G

c.175C>G

NM_001290030.2

p.H87P

c.260A>C