Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 48 variants

NM_020394.5

p.R84K

c.251G>A

NM_020394.5

p.V87A

c.260T>C

NM_020394.5

p.D439E

c.1317T>G

NM_020394.5

p.D439E

c.1317T>A

NM_020394.5

p.M110I

c.330G>T

NM_020394.5

p.M110I

c.330G>C

NM_020394.5

p.M110I

c.330G>A

NM_020394.5

p.C117Y

c.350G>A

NM_020394.5

p.A360T

c.1078G>A

NM_020394.5

p.K359_A360delins

c.1077_1078delinsGA

NM_020394.5

p.E377K

c.1129G>A

NM_020394.5

p.M1_G2Splc

c.4-155C>T