Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 14 variants

NM_006471.4

p.R5*

c.13A>T

NM_006471.4

p.T18A

c.52A>G

NM_006471.4

p.M1T

c.2T>C

NM_006471.4

p.R5delFs

c.15delA

NM_006471.4

p.N38D

c.112A>G

NM_006471.4

p.L53S

c.158T>C

NM_006471.4

p.H54H

c.162T>C

NM_006471.4

p.G61Splc

c.181+1G>A

NM_006471.4

p.D66V

c.197A>T

NM_006471.4

p.G90C

c.268G>T

NM_006471.4

p.D110G

c.329A>G

NM_006471.4

p.R132Q

c.395G>A