Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 87 variants

NM_031956.4

p.L110_E112delFs

c.330_334del5

NM_031956.4

p.H140Y

c.418C>T

NM_001300761.4

p.A85Splc

c.254+1G>A

NM_031956.4

p.A59Splc

c.176+1G>A

NM_031956.4

p.E111fs

c.331_332fs

NM_001300761.4

p.E138_K142delFs

c.412_425del14

NM_031956.4

p.D138_N142delFs

c.412_425del14

NM_031956.4

p.E183K

c.547G>A

NM_031956.4

p.Y250*

c.750C>A

NM_031956.4

p.A276T

c.826G>A

NM_031956.4

p.S326Splc

c.977+1G>T

NM_031956.4

p.M330_I334del5

c.988_1001del15