Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_001375765.1

p.E420K

c.1258G>A

Surrounding Variants

NM_001375765.1

p.P416L

c.1247C>T

NM_001375765.1

p.A413_G414insFs

c.1239_1240ins4

NM_001375765.1

p.G414Fs

c.1240delinsTGCTGFs

NM_001375765.1

p.G414fs

c.1240_1241fs

NM_001375765.1

p.Q430_E431Splc

c.1291-1G>A

NM_001375765.1

p.E431*

c.1291G>T

NM_001375765.1

p.E433K

c.1297G>A

NM_001375765.1

p.Q440_D441insGCT

c.1318_1322ins9

NM_001375765.1

p.A451_A452insG

c.1351_1355ins3

NM_001375765.1

p.R459C

c.1375C>T

NM_001375765.1

p.K391_E392Fs

c.1172_1176delinsGFs

NM_001375765.1

p.E392K

c.1174G>A