Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 16 variants

NM_020701.4

p.K26_E27Splc

c.79-5C>T

NM_020701.4

p.R69*

c.205C>T

NM_020701.4

p.N78D

c.232A>G

NM_020701.4

p.H86N

c.256C>A

NM_020701.4

p.A154V

c.461C>T

NM_020701.4

p.G161Fs

c.483delinsTGAFs

NM_020701.4

p.D164G

c.491A>G

NM_020701.4

p.E178K

c.532G>A

NM_020701.4

p.L181Splc

c.541+1G>A

NM_020701.4

p.R182G

c.544A>G

NM_020701.4

p.V186L

c.556G>T

NM_020701.4

p.V186L

c.556G>C