Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_001270531.2

p.T91_T92Splc

c.274-6G>T

Surrounding Variants

NM_001270531.2

p.Q95*

c.283C>T

NM_001270531.2

p.P103S

c.307C>T

NM_001270531.2

p.S104S

c.312C>T

NM_001270531.2

p.Q107L

c.320A>T

NM_001270531.2

p.L108L

c.324G>C

NM_001270531.2

p.A116V

c.347C>T

NM_001270531.2

p.I117N

c.350T>A

NM_001270531.2

p.L119V

c.355T>G

NM_001270531.2

p.G126D

c.377G>A

NM_001270531.2

p.E127_K134del8

c.379_401del24

NM_001270531.2

p.E127Q

c.379G>C

NM_001270531.2

p.E127_K134del0

c.380_400del21