Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_001371395.1

p.E194delFs

c.581delA

Surrounding Variants

NM_001371395.1

p.R195fs

c.583_584fs

NM_001371395.1

p.C190Splc

c.570-1G>A

NM_001371395.1

p.C228S

c.682T>A

NM_001371395.1

p.C228R

c.682T>C

NM_001371395.1

p.C228S

c.683G>C

NM_001371395.1

p.R236S

c.706C>A

NM_001371395.1

p.C241S

c.721T>A

NM_001371395.1

p.C241S

c.722G>C

NM_001371395.1

p.P242L

c.725C>T

NM_001371395.1

p.L258delFs

c.774delG

NM_001371395.1

p.T259fs

c.775_776fs

NM_001371395.1

p.Y277insFs

c.829dupT