Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 40 variants

NM_018413.6

p.A159T

c.475G>A

NM_018413.6

p.A4A

c.12G>A

NM_018413.6

p.L23F

c.69G>C

NM_018413.6

p.L23F

c.69G>T

NM_018413.6

p.F31fs

c.91_92fs

NM_018413.6

p.V40Splc

c.118+61914C>T

NM_018413.6

p.R42L

c.125G>T

NM_018413.6

p.Q68_L69Splc

c.204+57743G>A

NM_018413.6

p.Q68_L69Splc

c.204+73094A>G

NM_018413.6

p.Q68_L69Splc

c.205-26756A>G

NM_018413.6

p.Q68_L69Splc

c.205-1G>C

NM_018413.6

p.V76delFs

c.227delT