Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_080546.5

p.D517fs

c.1549_1550fs

Surrounding Variants

NM_080546.5

p.D517delFs

c.1549delG

NM_080546.5

p.A530S

c.1588G>T

NM_080546.5

p.T502A

c.1504A>G

NM_080546.5

p.Q498_N499Splc

c.1495-6G>A

NM_080546.5

p.Q498_N499Splc

c.1495-27G>A

NM_080546.5

p.K544_V545Splc

c.1632+1G>A

NM_080546.5

p.K544_V545Splc

c.1633-3861A>G

NM_080546.5

p.K544_V545Splc

c.1633-2A>G

NM_080546.5

p.N560S

c.1679A>G

NM_080546.5

p.V594L

c.1780G>C

NM_080546.5

p.V594L

c.1780G>T

NM_080546.5

p.Y607N

c.1819T>A