Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 69 variants

NM_001365552.1

p.K255Q

c.763A>C

NM_001365552.1

p.R474C

c.1420C>T

NM_001365552.1

p.N183Y

c.547A>T

NM_001365552.1

p.N459N

c.1377C>T

NM_001365552.1

p.Q12_L20del0

c.35_58del24

NM_001365552.1

p.G23E

c.68G>A

NM_001365552.1

p.H29Y

c.85C>T

NM_001365552.1

p.V31A

c.92T>C

NM_001365552.1

p.E51*

c.151G>T

NM_001365552.1

p.G85R

c.253G>A

NM_001365552.1

p.L106F

c.316C>T

NM_001365552.1

p.Q132_N133Splc

c.396+3A>G