Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 209 variants

NM_015472.6

p.S89A

c.265T>G

NM_015472.6

p.A216T

c.646G>A

NM_015472.6

p.P74Q

c.221C>A

NM_015472.6

p.Y118H

c.352T>C

NM_015472.6

p.Q233del1

c.697_698delCTG

NM_015472.6

p.M1I

c.3G>A

NM_015472.6

p.S51A

c.151T>G

NM_015472.6

p.G80R

c.238G>C

NM_015472.6

p.S117A

c.349T>G

NM_015472.6

p.R248Q

c.743G>A

NM_015472.6

p.L28H

c.83T>A

NM_015472.6

p.K45_K46Fs

c.134_136delinsCCFs