Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 41 variants

NM_181844.4

p.S244ins1

c.731_732insCAG

NM_181844.4

p.R293C

c.877C>T

NM_181844.4

p.G35E

c.104G>A

NM_181844.4

p.Q47Q

c.141A>G

NM_181844.4

p.R50I

c.149G>T

NM_181844.4

p.C59R

c.175T>C

NM_181844.4

p.G69V

c.206G>T

NM_181844.4

p.R102R

c.306C>G

NM_181844.4

p.P105A

c.313C>G

NM_181844.4

p.F130L

c.388T>C

NM_181844.4

p.I131_Q132delFs

c.392_395del4

NM_181844.4

p.F130L

c.390C>A