Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 53 variants

NM_001195215.2

p.G563S

c.1687G>A

NM_001195215.2

p.T322M

c.965C>T

NM_001195215.2

p.M597V

c.1789A>G

NM_001195215.2

p.T5insFs

c.14dupC

NM_001195215.2

p.K50M

c.149A>T

NM_001195215.2

p.T5I

c.14C>T

NM_001195215.2

p.T5T

c.15C>A

NM_001195215.2

p.A7fs

c.19_20fs

NM_001195215.2

p.A7V

c.20C>T

NM_001195215.2

p.N26Y

c.76A>T

NM_001195215.2

p.D28Splc

c.82+25629A>T

NM_001195215.2

p.D28Splc

c.83-20669G>A