Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_001394966.1

p.E272*

c.814G>T

Surrounding Variants

NM_001394966.1

p.R275C

c.823C>T

NM_001394966.1

p.T270_L276delFs

c.808_826del19

NM_001394966.1

p.A279E

c.836C>A

NM_001394966.1

p.Q282H

c.846G>T

NM_001394966.1

p.Q282H

c.846G>C

NM_001394966.1

p.Q286P

c.857A>C

NM_001394966.1

p.G292E

c.875G>A

NM_001394966.1

p.D303N

c.907G>A

NM_001394966.1

p.L307P

c.920T>C

NM_001394966.1

p.S310N

c.929G>A

NM_001394966.1

p.L315fs

c.943_944fs

NM_001394966.1

p.L315_V316delFs

c.943_946del4