Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 34 variants

NM_001242699.2

p.K205delFs

c.613delA

NM_001242699.2

p.K205fs

c.613_614fs

NM_001242699.2

p.K98R

c.293A>G

NM_001242699.2

p.L55_A56Splc

c.165+97T>G

NM_001242699.2

p.N57S

c.170A>G

NM_001242699.2

p.F90S

c.269T>C

NM_001242699.2

p.S102C

c.305C>G

NM_001242699.2

p.T143S

c.427A>T

NM_001242699.2

p.P199S

c.595C>T

NM_001242699.2

p.E226E

c.678G>A

NM_001242699.2

p.G234V

c.701G>T

NM_001242699.2

p.A240V

c.719C>T