Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 41 variants

NM_138454.2

p.D16N

c.46G>A

NM_138454.2

p.E64K

c.190G>A

NM_138454.2

p.E154V

c.461A>T

NM_138454.2

p.R109Splc

c.327-9G>A

NM_138454.2

p.T178I

c.533C>T

NM_138454.2

p.E204G

c.611A>G

NM_138454.2

p.E205G

c.614A>G

NM_138454.2

p.A208fs

c.622_623fs

NM_138454.2

p.R12C

c.34C>T

NM_138454.2

p.D18N

c.52G>A

NM_138454.2

p.R28P

c.83G>C

NM_138454.2

p.R33W

c.97C>T