Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 186 variants

NM_001004320.2

p.K234R

c.701A>G

NM_001004320.2

p.R17C

c.49C>T

NM_001004320.2

p.H149Y

c.445C>T

NM_001004320.2

p.R405*

c.1213C>T

NM_001004320.2

p.Q14*

c.40C>T

NM_001004320.2

p.F20_Y21insFs

c.60_61dupTT

NM_001004320.2

p.Y21fs

c.61_62fs

NM_001004320.2

p.V80I

c.238G>A

NM_001004320.2

p.W130*

c.389G>A

NM_001004320.2

p.G144R

c.430G>C

NM_001004320.2

p.G144R

c.430G>A

NM_001004320.2

p.H189D

c.565C>G