Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 124 variants

NM_033364.4

p.A207P

c.619G>C

NM_033364.4

p.D42H

c.124G>C

NM_033364.4

p.G228Splc

c.682+1G>A

NM_033364.4

p.T61S

c.182C>G

NM_033364.4

p.L67_R68Splc

c.201+2T>C

NM_033364.4

p.R196W

c.586C>T

NM_033364.4

p.G230S

c.688G>A

NM_033364.4

p.E264V

c.791A>T

NM_033364.4

p.R292L

c.875G>T

NM_033364.4

p.D366N

c.1096G>A

NM_033364.4

p.A531T

c.1591G>A

NM_033364.4

p.M1insFs

c.2dupT