Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 15 variants

NM_001257309.1

p.P173_T177delFs

c.518_530del13

NM_001257309.1

p.P173fs

c.517_518fs

NM_001257309.1

p.R41R

c.121A>C

NM_001257309.1

p.A58_P59delFs

c.173_177del5

NM_001257309.1

p.P167L

c.500C>T

NM_001257309.1

p.P173fs

c.517_518fs

NM_001257309.1

p.P173_T177del5

c.517_530del15

NM_001257309.1

p.Q182*

c.544C>T

NM_001257309.1

p.W185*

c.554G>A

NM_001257309.1

p.W185*

c.555G>A

NM_001257309.1

p.C210S

c.628T>A

NM_001257309.1

p.C210S

c.629G>C