Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

NM_001136508.2

p.Q84*

c.250C>T

NM_001136508.2

p.R59K

c.176G>A

NM_001136508.2

p.R76Q

c.227G>A

NM_001136508.2

p.A30V

c.89C>T

NM_001136508.2

p.L36L

c.106C>T

NM_001136508.2

p.R40*

c.118C>T

NM_001136508.2

p.Q84K

c.250C>A

NM_001136508.2

p.C117S

c.349T>A

NM_001136508.2

p.C117S

c.350G>C

NM_001136508.2

p.L160P

c.479T>C

NM_001136508.2

p.E176fs

c.526_527fs

NM_001136508.2

p.E176delFs

c.527delA