Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 18 variants

NM_018029.4

p.R84insFs

c.250_251insA

NM_018029.4

p.R84fs

c.250_251fs

NM_018029.4

p.I193V

c.577A>G

NM_018029.4

p.S46P

c.136T>C

NM_018029.4

p.Y164*

c.492T>G

NM_018029.4

p.V249_G250insA

c.745_749ins3

NM_018029.4

p.L256F

c.766C>T

NM_018029.4

p.D63D

c.189C>T

NM_018029.4

p.R76S

c.228A>T

NM_018029.4

p.N83fs

c.247_248fs

NM_018029.4

p.R84fs

c.250_251fs

NM_018029.4

p.H118P

c.353A>C