Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 19 variants

NM_005672.5

p.M1T

c.2T>C

NM_005672.5

p.W109*

c.326G>A

NM_005672.5

p.W109*

c.327G>A

NM_005672.5

p.C14Y

c.41G>A

NM_005672.5

p.S16insFs

c.46_47insT

NM_005672.5

p.C17S

c.49T>A

NM_005672.5

p.C17S

c.50G>C

NM_005672.5

p.K18Q

c.52A>C

NM_005672.5

p.Q20L

c.59A>T

NM_005672.5

p.D25N

c.73G>A

NM_005672.5

p.E30K

c.88G>A

NM_005672.5

p.S65L

c.194C>T