Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 19 variants

NM_001080524.2

p.K53N

c.159G>T

NM_001080524.2

p.K53N

c.159G>C

NM_001080524.2

p.V18L

c.52G>T

NM_001080524.2

p.V18L

c.52G>C

NM_001080524.2

p.E36E

c.108G>A

NM_001080524.2

p.P42P

c.126G>A

NM_001080524.2

p.P44P

c.132G>A

NM_001080524.2

p.R58W

c.172C>T

NM_001080524.2

p.E97fs

c.289_290fs

NM_001080524.2

p.E97_W101delFs

c.290_302del13

NM_001080524.2

p.R113C

c.337C>T

NM_001080524.2

p.C117fs

c.349_350fs