Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_001378789.1

p.L184*

c.551T>A

Surrounding Variants

NM_001378789.1

p.L184*

c.551T>G

NM_001378789.1

p.W180*

c.540G>A

NM_001378789.1

p.W180*

c.539G>A

NM_001378789.1

p.V200A

c.599T>C

NM_001378789.1

p.K203_D204Splc

c.609+1G>T

NM_001378789.1

p.K203_D204Splc

c.609+1G>A

NM_001378789.1

p.N226Y

c.676A>T

NM_001378789.1

p.R229C

c.685C>T

NM_001378789.1

p.R229H

c.686G>A

NM_001378789.1

p.T232N

c.695C>A

NM_001378789.1

p.D239V

c.716A>T

NM_001290341.2

p.D250V

c.749A>T

NM_001378789.1

p.W244*

c.731G>A