Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 41 variants

NM_001370158.1

p.R272*

c.814C>T

NM_001370158.1

p.H161R

c.482A>G

NM_001370158.1

p.M248V

c.742A>G

NM_001370158.1

p.L38F

c.112C>T

NM_001370158.1

p.C128Y

c.383G>A

NM_001370158.1

p.M248delins

c.742_743delinsGA

NM_001370158.1

p.M248K

c.743T>A

NM_001370158.1

p.S20delFs

c.58_59delAG

NM_001370158.1

p.Q23K

c.67C>A

NM_001370158.1

p.L25Q

c.74T>A

NM_001370158.1

p.L25_E26delFs

c.75_76delGG

NM_001370158.1

p.Q29*

c.85C>T