Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_001034853.2

p.E750*

c.2248G>T

Surrounding Variants

NM_001034853.2

p.E750fs

c.2248_2249fs

NM_001034853.2

p.E749E

c.2247A>G

NM_001034853.2

p.E749*

c.2245G>T

NM_001034853.2

p.K751fs

c.2251_2252fs

NM_001034853.2

p.K751*

c.2251A>T

NM_001034853.2

p.K751E

c.2251A>G

NM_001034853.2

p.E750_K751delFs

c.2250_2251delTC

NM_001034853.2

p.E748V

c.2243A>T

NM_001034853.2

p.E747_E748delFs

c.2241_2242delCC

NM_001034853.2

p.E746_E747delFs

c.2238_2239delCT

NM_001034853.2

p.E746_E747delFs

c.2237_2241del5

NM_001034853.2

p.E750_K751delFs

c.2249_2253del5