Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 61 variants

NM_020817.2

p.E696D

c.2088A>T

NM_020817.2

p.E696D

c.2088A>C

NM_020817.2

p.H84N

c.250C>A

NM_020817.2

p.Q820_Y821Splc

c.2461-1G>T

NM_020817.2

p.A415fs

c.1243_1244fs

NM_020817.2

p.A415delFs

c.1245delG

NM_020817.2

p.H860Q

c.2580T>G

NM_020817.2

p.H860Q

c.2580T>A

NM_020817.2

p.M1T

c.2T>C

NM_020817.2

p.M1K

c.2T>A

NM_020817.2

p.S11A

c.31T>G

NM_020817.2

p.R60G

c.178A>G