Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 74 variants

NM_001163735.2

p.L863F

c.2587C>T

NM_001163735.2

p.D23G

c.68A>G

NM_001163735.2

p.A68G

c.203C>G

NM_001163735.2

p.M1insFs

c.2dupT

NM_001163735.2

p.L2I

c.4C>A

NM_001163735.2

p.V5L

c.13G>C

NM_001163735.2

p.N6S

c.17A>G

NM_001163735.2

p.P10L

c.29C>T

NM_001163735.2

p.D39V

c.116A>T

NM_001163735.2

p.V51Splc

c.152-40A>G

NM_001163735.2

p.R58Q

c.173G>A

NM_001163735.2

p.L72_L75delFs

c.216_225del10