Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 26 variants

NM_001013647.2

p.R67H

c.200G>A

NM_001013647.2

p.M7I

c.21G>T

NM_001013647.2

p.M7I

c.21G>C

NM_001013647.2

p.M7I

c.21G>A

NM_001013647.2

p.N32del1

c.94_96delATT

NM_001013647.2

p.K40M

c.119A>T

NM_001013647.2

p.S48Splc

c.142+1472G>A

NM_001013647.2

p.L75L

c.225G>A

NM_001013647.2

p.R92H

c.275G>A

NM_001013647.2

p.S94_E96del3

c.280_287del9

NM_001013647.2

p.C156F

c.467G>T

NM_001013647.2

p.S189del1

c.565_567delAGA