Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 157 variants

NM_001330564.2

p.K1006fs

c.3016_3017fs

NM_001330564.2

p.K1006delFs

c.3018delT

NM_001330564.2

p.S227S

c.681G>A

NM_001330564.2

p.R306*

c.916C>T

NM_001330564.2

p.R369C

c.1105C>T

NM_001330564.2

p.R656H

c.1967G>A

NM_001330564.2

p.R758fs

c.2272_2273fs

NM_001330564.2

p.R758delFs

c.2272_2273delCT

NM_001330564.2

p.P1102S

c.3304C>T

NM_001330564.2

p.R1196Q

c.3587G>A

NM_001330564.2

p.R1333H

c.3998G>A

NM_001330564.2

p.M1T

c.2T>C