Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

NM_001366245.2

p.R56*

c.166A>T

NM_001366245.2

p.M1K

c.2T>A

NM_001366245.2

p.S26A

c.76T>G

NM_001366245.2

p.S26F

c.77C>T

NM_001366245.2

p.S34R

c.100A>C

NM_001366245.2

p.S34R

c.102T>G

NM_001366245.2

p.S34R

c.102T>A

NM_001366245.2

p.P40_W42delFs

c.120_126del7

NM_001366245.2

p.K59K

c.177A>G

NM_001366245.2

p.E125A

c.374A>C

NM_001366245.2

p.K120_W126del7

c.358_377del21

NM_001366245.2

p.H302L

c.905A>T