Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 31 variants

NM_144641.4

p.H127D

c.379C>G

NM_144641.4

p.R167H

c.500G>A

NM_144641.4

p.D235A

c.704A>C

NM_144641.4

p.D440N

c.1318G>A

NM_144641.4

p.R32G

c.94C>G

NM_144641.4

p.R33Q

c.98G>A

NM_144641.4

p.R33P

c.98G>C

NM_144641.4

p.L37L

c.111T>G

NM_144641.4

p.I76fs

c.226_227fs

NM_144641.4

p.A90T

c.268G>A

NM_144641.4

p.C99fs

c.295_296fs

NM_144641.4

p.C99_E114delFs

c.296_342del47