Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 31 variants

NM_001395208.2

p.S198N

c.593G>A

NM_001395208.2

p.C298*

c.894T>A

NM_001395208.2

p.N10T

c.29A>C

NM_001395208.2

p.T39fs

c.115_116fs

NM_001395208.2

p.T39I

c.116C>T

NM_001395208.2

p.T39delFs

c.117delT

NM_001395208.2

p.D45Splc

c.135-2A>G

NM_001395208.2

p.R59*

c.175A>T

NM_001395208.2

p.S60L

c.179C>T

NM_001395208.2

p.E86Q

c.256G>C

NM_001395208.2

p.Q89K

c.265C>A

NM_001395208.2

p.D95N

c.283G>A