Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 39 variants

NM_001005922.1

p.S105C

c.314C>G

NM_001005922.1

p.S247*

c.740C>G

NM_001005922.1

p.S247*

c.740C>A

NM_001005922.1

p.G37_S40delFs

c.110_120del11

NM_001005922.1

p.G110_G120del0

c.330_359del30

NM_001005922.1

p.G110_G120del11

c.328_359del33

NM_001005922.1

p.S163C

c.488C>G

NM_001005922.1

p.C187*

c.561C>A

NM_001005922.1

p.S12F

c.35C>T

NM_001005922.1

p.G22fs

c.64_65fs

NM_001005922.1

p.G30D

c.89G>A

NM_001005922.1

p.S38F

c.113C>T