Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 32 variants

NM_001004052.1

p.P205S

c.613C>T

NM_001004052.1

p.R308W

c.922C>T

NM_001004052.1

p.T4I

c.11C>T

NM_001004052.1

p.T7insFs

c.20dupC

NM_001004052.1

p.P17S

c.49C>T

NM_001004052.1

p.E23D

c.69G>T

NM_001004052.1

p.E23D

c.69G>C

NM_001004052.1

p.Y25*

c.75T>A

NM_001004052.1

p.C34G

c.100T>G

NM_001004052.1

p.S114*

c.341C>G

NM_001004052.1

p.S114*

c.341C>A

NM_001004052.1

p.A115D

c.344C>A