Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 29 variants

NM_001256378.2

p.R69C

c.205C>T

NM_001256378.2

p.R163H

c.488G>A

NM_001256378.2

p.P2S

c.4C>T

NM_001256378.2

p.A20Splc

c.58+2T>G

NM_001256378.2

p.E54Q

c.160G>C

NM_001256378.2

p.H58Q

c.174T>A

NM_001256378.2

p.K93E

c.277A>G

NM_001256378.2

p.V105I

c.313G>A

NM_001256378.2

p.G109_P110Splc

c.328-142T>C

NM_001256378.2

p.Q111*

c.331C>T

NM_001256378.2

p.L114P

c.341T>C

NM_001256378.2

p.P133L

c.398C>T