Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 147 variants

NM_003750.4

p.R803K

c.2408G>A

NM_003750.4

p.I83K

c.248T>A

NM_003750.4

p.Y382C

c.1145A>G

NM_003750.4

p.R842Q

c.2525G>A

NM_003750.4

p.D984N

c.2950G>A

NM_003750.4

p.R1046W

c.3136C>T

NM_003750.4

p.G1102_G1112del0

c.3306_3335del30

NM_003750.4

p.R1275H

c.3824G>A

NM_003750.4

p.R1304H

c.3911G>A

NM_003750.4

p.L12P

c.35T>C

NM_003750.4

p.R14H

c.41G>A

NM_003750.4

p.E17fs

c.49_50fs