Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 55 variants

NM_031422.6

p.R342H

c.1025G>A

NM_031422.6

p.V43M

c.127G>A

NM_031422.6

p.M68Splc

c.202+33413A>C

NM_031422.6

p.S122N

c.365G>A

NM_031422.6

p.K213T

c.638A>C

NM_031422.6

p.R314Q

c.941G>A

NM_031422.6

p.N378S

c.1133A>G

NM_031422.6

p.P441S

c.1321C>T

NM_031422.6

p.P3S

c.7C>T

NM_031422.6

p.Q12K

c.34C>A

NM_031422.6

p.L15I

c.43C>A

NM_031422.6

p.V17delFs

c.50_51delCA