Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 272 variants

NM_001379200.1

p.E310K

c.928G>A

NM_080647.1

p.G310S

c.928G>A

NM_080647.1

p.S408delFs

c.1223delC

NM_080647.1

p.E129K

c.385G>A

NM_080647.1

p.N397H

c.1189A>C

NM_001379200.1

p.E418delFs

c.1253delA

NM_080647.1

p.F148Y

c.443T>A

NM_001379200.1

p.M148K

c.443T>A

NM_001379200.1

p.A194A

c.582C>G

NM_080647.1

p.H194Q

c.582C>A

NM_080647.1

p.H194Q

c.582C>G

NM_001379200.1

p.G386_G387Fs

c.1158_1159delinsTFs