Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 570 variants

NM_015346.4

p.S1312*

c.3935C>G

NM_015346.4

p.S1312*

c.3935C>A

NM_015346.4

p.S615F

c.1844C>T

NM_015346.4

p.L243P

c.728T>C

NM_015346.4

p.I508N

c.1523T>A

NM_015346.4

p.R1602*

c.4804C>T

NM_015346.4

p.S2004T

c.6011G>C

NM_015346.4

p.S2004T

c.6011G>C

NM_015346.4

p.Q493*

c.1477C>T

NM_015346.4

p.Q752*

c.2254C>T

NM_015346.4

p.R1378*

c.4132C>T

NM_015346.4

p.R1438*

c.4312C>T