Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 112 variants

NM_001012720.2

p.S66R

c.196A>C

NM_001012720.2

p.S66R

c.198C>A

NM_001012720.2

p.S66R

c.198C>G

NM_001012720.2

p.S241F

c.722C>T

NM_001012720.2

p.H152N

c.454C>A

NM_001012720.2

p.G275insFs

c.824dupG

NM_001012720.2

p.A234T

c.700G>A

NM_001012720.2

p.M248_V249Splc

c.744+5A>G

NM_001012720.2

p.T9T

c.27T>C

NM_001012720.2

p.R79Q

c.236G>A

NM_001012720.2

p.I276fs

c.826_827fs

NM_001012720.2

p.M1T

c.2T>C