Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 46 variants

NM_005372.1

p.N95K

c.285C>A

NM_005372.1

p.N95K

c.285C>G

NM_005372.1

p.G156delFs

c.467delC

NM_005372.1

p.A105S

c.313G>T

NM_005372.1

p.M139T

c.416T>C

NM_005372.1

p.G156fs

c.466_467fs

NM_005372.1

p.H199L

c.596A>T

NM_005372.1

p.R246H

c.737G>A

NM_005372.1

p.S264C

c.791C>G

NM_005372.1

p.A292V

c.875C>T

NM_005372.1

p.C320*

c.960C>A

NM_005372.1

p.M1I

c.3G>T