Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_018296.6

p.R53Q

c.158G>A

Surrounding Variants

NM_018296.6

p.S54F

c.161C>T

NM_018296.6

p.Q32L

c.95A>T

NM_018296.6

p.L29F

c.85C>T

NM_018296.6

p.K66_G67Splc

c.199-4G>A

NM_018296.6

p.E89K

c.265G>A

NM_018296.6

p.D132insFs

c.394_395ins49

NM_018296.6

p.D132N

c.394G>A

NM_018296.6

p.R133Q

c.398G>A

NM_018296.6

p.K162Q

c.484A>C

NM_018296.6

p.S163N

c.488G>A

NM_018296.6

p.S163Splc

c.488+5G>A

NM_018296.6

p.V173G

c.518T>G