Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

NM_194296.2

p.V15M

c.43G>A

NM_194296.2

p.S28C

c.83C>G

NM_194296.2

p.A68A

c.204C>G

NM_194296.2

p.V88A

c.263T>C

NM_194296.2

p.E129Splc

c.386-8C>G

NM_194296.2

p.E129Splc

c.386-2A>G

NM_194296.2

p.Q157P

c.470A>C

NM_194296.2

p.R170W

c.508C>T

NM_194296.2

p.R170Q

c.509G>A

NM_194296.2

p.Q185*

c.553C>T

NM_194296.2

p.S191S

c.573A>G