Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

NM_001282492.2

p.F172L

c.514T>C

NM_001282492.2

p.F172L

c.516T>G

NM_001282492.2

p.F172L

c.516T>A

NM_001282492.2

p.A20E

c.59C>A

NM_001282492.2

p.R31C

c.91C>T

NM_001282492.2

p.E43K

c.127G>A

NM_001282492.2

p.I46delFs

c.136delT

NM_001282492.2

p.I46fs

c.136_137fs

NM_001282492.2

p.A105T

c.313G>A