Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_001162501.2

p.E1152*

c.3454G>T

Surrounding Variants

NM_001162501.2

p.Q1194_G1195Splc

c.3582+1G>T

NM_001162501.2

p.P1133H

c.3398C>A

NM_001162501.2

p.P1120Q

c.3359C>A

NM_001162501.2

p.R1115*

c.3343C>T

NM_001162501.2

p.D1106N

c.3316G>A

NM_001162501.2

p.K1094N

c.3282A>C

NM_001162501.2

p.K1094N

c.3282A>T

NM_001162501.2

p.K1094I

c.3281A>T

NM_001162501.2

p.G1088Splc

c.3262+5G>C

NM_001162501.2

p.L1062F

c.3184C>T

NM_001162501.2

p.G1053R

c.3157G>A

NM_001162501.2

p.L1050fs

c.3148_3149fs