Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_001350451.2

p.G190fs

c.568_569fs

Surrounding Variants

NM_001350451.2

p.W191fs

c.571_572fs

NM_001350451.2

p.V196V

c.588G>C

NM_001350451.2

p.V200I

c.598G>A

NM_001350451.2

p.V200insFs

c.599_600insT

NM_001350451.2

p.A207V

c.620C>T

NM_001350451.2

p.V208Splc

c.622+19C>G

NM_001350451.2

p.V208Splc

c.623-4G>T

NM_001350451.2

p.V220A

c.659T>C

NM_001350451.2

p.R230P

c.689G>C

NM_001350451.2

p.A241A

c.723G>A

NM_001350451.2

p.P242P

c.726A>T

NM_001350451.2

p.A253fs

c.757_758fs