Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_000316.3

p.F378_I379delFs

c.1134_1137del4

Surrounding Variants

NM_000316.3

p.L377_F378insFs

c.1131_1132insC

NM_000316.3

p.I381S

c.1142T>G

NM_000316.3

p.R383Q

c.1148G>A

NM_000316.3

p.V372_L373Splc

c.1117-1G>A

NM_000316.3

p.K388Q

c.1162A>C

NM_000316.3

p.K388E

c.1162A>G

NM_000316.3

p.R390W

c.1168C>T

NM_000316.3

p.E391A

c.1172A>C

NM_000316.3

p.A394D

c.1181C>A

NM_000316.3

p.A394A

c.1182C>T

NM_000316.3

p.G395_R396ins1

c.1185_1186insGCC

NM_000316.3

p.Q401*

c.1201C>T