Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 55 variants

NM_001008409.5

p.D250Splc

c.749-1G>C

NM_001008409.5

p.G71R

c.211G>A

NM_001008409.5

p.G71R

c.211G>C

NM_001008409.5

p.C78R

c.232T>C

NM_001008409.5

p.K34K

c.102G>A

NM_001008409.5

p.S43L

c.128C>T

NM_001008409.5

p.R45Q

c.134G>A

NM_001008409.5

p.F46L

c.136T>C

NM_001008409.5

p.F46L

c.138C>A

NM_001008409.5

p.F46L

c.138C>G

NM_001008409.5

p.N52fs

c.154_155fs

NM_001008409.5

p.N52delFs

c.155_156delAC