Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 19 variants

NM_001008390.2

p.A18V

c.53C>T

NM_001008390.2

p.K16Q

c.46A>C

NM_001008390.2

p.P23S

c.67C>T

NM_001008390.2

p.F30F

c.90T>C

NM_001008390.2

p.C43Y

c.128G>A

NM_001008390.2

p.R54C

c.160C>T

NM_001008390.2

p.N78N

c.234T>C

NM_001008390.2

p.V101A

c.302T>C

NM_001008390.2

p.N115fs

c.343_344fs

NM_001008390.2

p.A114_N115insFs

c.342_343ins10

NM_001008390.2

p.A128A

c.384T>G

NM_001008390.2

p.V134V

c.402G>A