Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_001162501.2

p.R713*

c.2137C>T

Surrounding Variants

NM_001162501.2

p.R713P

c.2138G>C

NM_001162501.2

p.N723_E724insFs

c.2169_2170ins4

NM_001162501.2

p.Q730delFs

c.2189delA

NM_001162501.2

p.G731W

c.2191G>T

NM_001162501.2

p.N694S

c.2081A>G

NM_001162501.2

p.K693T

c.2078A>C

NM_001162501.2

p.E682fs

c.2044_2045fs

NM_001162501.2

p.W680*

c.2040G>A

NM_001162501.2

p.G745A

c.2234G>C

NM_001162501.2

p.W680*

c.2039G>A

NM_001162501.2

p.E682insFs

c.2044dupG

NM_001162501.2

p.E682delFs

c.2044delG