Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 84 variants

NM_001318510.2

p.Y442C

c.1325A>G

NM_001318510.2

p.R529S

c.1585C>A

NM_001318510.2

p.K316insFs

c.948dupA

NM_001318510.2

p.P334_E335Splc

c.1003-2A>G

NM_001318510.2

p.L381Splc

c.1143-2A>G

NM_001318510.2

p.Q483R

c.1448A>G

NM_001318510.2

p.R529C

c.1585C>T

NM_001318510.2

p.R529H

c.1586G>A

NM_001318510.2

p.D12D

c.36C>T

NM_001318510.2

p.I30K

c.89T>A

NM_001318510.2

p.D31G

c.92A>G

NM_001318510.2

p.P33S

c.97C>T