Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 21 variants

NM_001284527.2

p.A184S

c.550G>T

NM_001284527.2

p.S33A

c.97T>G

NM_001284527.2

p.R37C

c.109C>T

NM_001284527.2

p.E83insFs

c.248dupA

NM_001284527.2

p.Q122_V123Splc

c.366+956T>G

NM_001284527.2

p.D129G

c.386A>G

NM_001284527.2

p.R214C

c.640C>T

NM_001284527.2

p.Q272*

c.814C>T

NM_001284527.2

p.M290V

c.868A>G

NM_001284527.2

p.R322T

c.965G>C

NM_001284527.2

p.Y332H

c.994T>C

NM_001284527.2

p.V353A

c.1058T>C