Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_001300942.2

p.Q522*

c.1564C>T

Surrounding Variants

NM_020193.5

p.G505Splc

c.1514-4G>A

NM_001300942.2

p.G520Splc

c.1559-4G>A

NM_001300942.2

p.P532L

c.1595C>T

NM_001300942.2

p.S553N

c.1658G>A

NM_001300942.2

p.L565fs

c.1693_1694fs

NM_020193.5

p.G505Splc

c.1513+37T>A

NM_001300942.2

p.I509V

c.1525A>G

NM_001300942.2

p.S504G

c.1510A>G

NM_001300942.2

p.M501V

c.1501A>G

NM_001300942.2

p.M501L

c.1501A>T

NM_001300942.2

p.S495G

c.1483A>G

NM_001300942.2

p.T494A

c.1480A>G

NM_020193.5

p.G562Splc

c.1685-14C>T