Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 26 variants

NM_001370470.1

p.E18K

c.52G>A

NM_001370470.1

p.P48L

c.143C>T

NM_001370470.1

p.A54T

c.160G>A

NM_001370470.1

p.A56V

c.167C>T

NM_001370470.1

p.L69L

c.205C>T

NM_001370470.1

p.R78C

c.232C>T

NM_001370470.1

p.E83G

c.248A>G

NM_001370470.1

p.E105Splc

c.313+9G>C

NM_001370470.1

p.M110fs

c.328_329fs

NM_001370470.1

p.M110_M117delFs

c.330_351del22

NM_001370470.1

p.R115G

c.343A>G

NM_001370470.1

p.E118G

c.353A>G