Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 52 variants

NM_006898.5

p.P192R

c.575C>G

NM_006898.5

p.P372L

c.1115C>T

NM_006898.5

p.Q5K

c.13C>A

NM_006898.5

p.Q5*

c.13C>T

NM_006898.5

p.N25T

c.74A>C

NM_006898.5

p.P26S

c.76C>T

NM_006898.5

p.P26L

c.77C>T

NM_006898.5

p.G42S

c.124G>A

NM_006898.5

p.S44R

c.130A>C

NM_006898.5

p.S44R

c.132C>A

NM_006898.5

p.S44R

c.132C>G

NM_006898.5

p.H47fs

c.139_140fs