Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 113 variants

NM_001256627.2

p.R65Q

c.194G>A

NM_001256627.2

p.R621C

c.1861C>T

NM_001256627.2

p.T730A

c.2188A>G

NM_001256627.2

p.E53V

c.158A>T

NM_001256627.2

p.G212E

c.635G>A

NM_001256627.2

p.K331del1

c.991_992delAAG

NM_001256627.2

p.E511fs

c.1531_1532fs

NM_001256627.2

p.K48M

c.143A>T

NM_001256627.2

p.L148Q

c.443T>A

NM_001256627.2

p.A158T

c.472G>A

NM_001256627.2

p.T174A

c.520A>G

NM_001256627.2

p.R222*

c.664C>T