Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 25 variants

NM_001005190.2

p.M151T

c.452T>C

NM_001005190.2

p.L44I

c.130C>A

NM_001005190.2

p.Q183E

c.547C>G

NM_001005190.2

p.S33C

c.98C>G

NM_001005190.2

p.A48S

c.142G>T

NM_001005190.2

p.C97fs

c.289_290fs

NM_001005190.2

p.R122W

c.364C>T

NM_001005190.2

p.M172R

c.515T>G

NM_001005190.2

p.H176Y

c.526C>T

NM_001005190.2

p.L187R

c.560T>G

NM_001005190.2

p.S190P

c.568T>C

NM_001005190.2

p.M199Fs

c.597delinsGAAGATFs