Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 18 variants

NM_001242818.2

p.E41K

c.121G>A

NM_001242818.2

p.E46fs

c.136_137fs

NM_001242818.2

p.E46_R55delFs

c.138_163del26

NM_001242818.2

p.V95M

c.283G>A

NM_001242818.2

p.S103L

c.308C>T

NM_001242818.2

p.Q121R

c.362A>G

NM_001242818.2

p.P131S

c.391C>T

NM_001242818.2

p.P131L

c.392C>T

NM_001242818.2

p.S179I

c.536G>T

NM_001242818.2

p.N203N

c.609C>T

NM_001242818.2

p.R258H

c.773G>A

NM_001242818.2

p.A358fs

c.1072_1073fs