Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 57 variants

NM_004604.5

p.D19A

c.56A>C

NM_004604.5

p.Q126_H127Splc

c.379-1168C>T

NM_004604.5

p.M144V

c.430A>G

NM_004604.5

p.E174A

c.521A>C

NM_004604.5

p.E236K

c.706G>A

NM_004604.5

p.R240W

c.718C>T

NM_004604.5

p.T5I

c.14C>T

NM_004604.5

p.E18V

c.53A>T

NM_004604.5

p.V26A

c.77T>C

NM_004604.5

p.V27M

c.79G>A

NM_004604.5

p.G30delFs

c.89_90delGC

NM_004604.5

p.G30fs

c.88_89fs