Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

NM_005466.4

p.E48Q

c.142G>C

NM_005466.4

p.V64I

c.190G>A

NM_005466.4

p.R86L

c.257G>T

NM_005466.4

p.P109S

c.325C>T

NM_005466.4

p.E132insFs

c.395dupA

NM_005466.4

p.S135L

c.404C>T

NM_005466.4

p.K165E

c.493A>G

NM_005466.4

p.R176C

c.526C>T

NM_005466.4

p.K191R

c.572A>G

NM_005466.4

p.P203L

c.608C>T

NM_005466.4

p.V204V

c.612G>T

NM_005466.4

p.M243R

c.728T>G