Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_001395496.1

p.E94K

c.280G>A

Surrounding Variants

NM_001395496.1

p.K104_P105Splc

c.312+3A>G

NM_001395496.1

p.V113A

c.338T>C

NM_001395496.1

p.T142_A143del1

c.426_428delTGC

NM_001395496.1

p.S153L

c.458C>T

NM_001395496.1

p.F155S

c.464T>C

NM_001395496.1

p.K163insFs

c.487_488dupAA

NM_001395496.1

p.G183S

c.547G>A

NM_001395496.1

p.N210insFs

c.629dupA

NM_001395496.1

p.N231fs

c.691_692fs

NM_001395496.1

p.Q246insFs

c.736_737dupCA

NM_001395496.1

p.Q247insFs

c.739_740dupCA