Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_018559.5

p.T138A

c.412A>G

Surrounding Variants

NM_018559.5

p.I147V

c.439A>G

NM_018559.5

p.P155Q

c.464C>A

NM_018559.5

p.N159S

c.476A>G

NM_018559.5

p.K172E

c.514A>G

NM_018559.5

p.D180_D181Splc

c.540+1G>A

NM_018559.5

p.P197R

c.590C>G

NM_018559.5

p.D201fs

c.601_602fs

NM_018559.5

p.D201_F202insFs

c.603_604insT

NM_018559.5

p.K235_E236Splc

c.706-114C>T

NM_018559.5

p.D248H

c.742G>C

NM_018559.5

p.Q136R

c.407A>G

NM_018559.5

p.D88del1

c.262_263delGAT