Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 60 variants

NM_004855.5

p.Q282_W283Splc

c.847-10A>G

NM_004855.5

p.D155H

c.463G>C

NM_004855.5

p.W299L

c.896G>T

NM_004855.5

p.R232H

c.695G>A

NM_004855.5

p.G265A

c.794G>C

NM_004855.5

p.F327L

c.981T>G

NM_004855.5

p.L378F

c.1134A>C

NM_004855.5

p.L378F

c.1134A>T

NM_004855.5

p.R532Q

c.1595G>A

NM_004855.5

p.E11*

c.31G>T

NM_004855.5

p.P12fs

c.34_35fs

NM_004855.5

p.P12insFs

c.36dupG