Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 34 variants

NM_016546.4

p.I285V

c.853A>G

NM_016546.4

p.T100_I101Splc

c.301-3C>G

NM_016546.4

p.E173K

c.517G>A

NM_016546.4

p.M24Splc

c.72-3C>G

NM_016546.4

p.P37_T38insFs

c.111_112insGC

NM_016546.4

p.S54Y

c.161C>A

NM_016546.4

p.K72R

c.215A>G

NM_016546.4

p.A73P

c.217G>C

NM_016546.4

p.S91F

c.272C>T

NM_016546.4

p.A95P

c.283G>C

NM_016546.4

p.T100_I101Splc

c.301-487C>G

NM_016546.4

p.G105S

c.313G>A