Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

NM_001395276.1

p.C61_H62insFs

c.183_184insCT

NM_001395276.1

p.H62_V63delFs

c.186_187delTG

NM_001395276.1

p.P68Q

c.203C>A

NM_001395276.1

p.Q86delFs

c.256delC

NM_001395276.1

p.K97*

c.289A>T

NM_001395276.1

p.S109C

c.326C>G

NM_001395276.1

p.R130*

c.388A>T

NM_001395276.1

p.R183_R184insCT

c.547_551ins6