Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 52 variants

NM_001304993.2

p.G108A

c.323G>C

NM_001304993.2

p.G108R

c.322G>A

NM_001304993.2

p.G108R

c.322G>C

NM_001304993.2

p.A209V

c.626C>T

NM_001304993.2

p.S228fs

c.682_683fs

NM_001304993.2

p.D2V

c.5A>T

NM_001304993.2

p.D2_G3Fs

c.5_9delinsCATFs

NM_001304993.2

p.G3S

c.7G>A

NM_001304993.2

p.Q11R

c.32A>G

NM_001304993.2

p.E22K

c.64G>A

NM_001304993.2

p.E22Q

c.64G>C

NM_001304993.2

p.E22G

c.65A>G