Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 24 variants

NM_001384253.1

p.A8_S9delFs

c.22_26del5

NM_001384253.1

p.W13*

c.38G>A

NM_001384253.1

p.W13*

c.39G>A

NM_001384253.1

p.R22_S26del5

c.64_77del15

NM_001384253.1

p.S56S

c.168C>T

NM_001384253.1

p.S74S

c.222C>T

NM_001384253.1

p.S76R

c.226A>C

NM_001384253.1

p.L91L

c.271C>T

NM_001384253.1

p.N120H

c.358A>C

NM_001384253.1

p.T131T

c.393C>T

NM_001384253.1

p.R142_N143insFs

c.426_427ins20

NM_001384253.1

p.T246S

c.736A>T