Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 55 variants

NM_014426.4

p.Y132D

c.394T>G

NM_014426.4

p.E144A

c.431A>C

NM_014426.4

p.E181E

c.543G>A

NM_014426.4

p.K17_L18Splc

c.52-1G>T

NM_014426.4

p.E129A

c.386A>C

NM_014426.4

p.A341V

c.1022C>T

NM_014426.4

p.A2V

c.5C>T

NM_014426.4

p.A3T

c.7G>A

NM_014426.4

p.Q11*

c.31C>T

NM_014426.4

p.S30L

c.89C>T

NM_014426.4

p.K44N

c.132A>T

NM_014426.4

p.K44N

c.132A>C