Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

NM_001396030.1

p.R31H

c.92G>A

NM_001396030.1

p.H44Q

c.132C>A

NM_001396030.1

p.L228L

c.684G>A

NM_001396030.1

p.P267S

c.799C>T

NM_001396030.1

p.C269R

c.805T>C

NM_001396030.1

p.K378_R381insFs

c.1133_1142dup10

NM_001396030.1

p.A385fs

c.1153_1154fs