Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 38 variants

NM_005447.4

p.R46H

c.137G>A

NM_005447.4

p.R127W

c.379C>T

NM_005447.4

p.R127Q

c.380G>A

NM_005447.4

p.R166Q

c.497G>A

NM_005447.4

p.M1V

c.1A>G

NM_005447.4

p.R16Splc

c.47+1G>C

NM_005447.4

p.V40D

c.119T>A

NM_005447.4

p.R46C

c.136C>T

NM_005447.4

p.E58K

c.172G>A

NM_005447.4

p.H60R

c.179A>G

NM_005447.4

p.R68P

c.203G>C

NM_005447.4

p.R68Q

c.203G>A