Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_000444.6

p.C693F

c.2078G>T

Surrounding Variants

NM_000444.6

p.C693Y

c.2078G>A

NM_000444.6

p.C693S

c.2078G>C

NM_000444.6

p.C693S

c.2077T>A

NM_000444.6

p.C693R

c.2077T>C

NM_000444.6

p.N694_S695insGA

c.2080_2084ins6

NM_000444.6

p.S695delFs

c.2083delT

NM_000444.6

p.R692_N694del0

c.2074_2082del9

NM_000444.6

p.S695delFs

c.2085delC

NM_000444.6

p.S695fs

c.2083_2084fs

NM_000444.6

p.V691fs

c.2071_2072fs

NM_000444.6

p.H690_V691Splc

c.2071-1G>A

NM_000444.6

p.H690_V691Splc

c.2071-1G>C