Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 29 variants

NM_005459.4

p.E18*

c.52G>T

NM_005459.4

p.V72I

c.214G>A

NM_005459.4

p.M85V

c.253A>G

NM_005459.4

p.G148Splc

c.442+1G>T

NM_005459.4

p.G148V

c.443G>T

NM_005459.4

p.M1I

c.3G>T

NM_005459.4

p.K5*

c.13A>T

NM_005459.4

p.S6T

c.16T>A

NM_005459.4

p.K12R

c.35A>G

NM_005459.4

p.A13T

c.37G>A

NM_005459.4

p.T16A

c.46A>G

NM_005459.4

p.T42I

c.125C>T