Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 32 variants

NM_001284401.2

p.N116S

c.347A>G

NM_001284401.2

p.P40S

c.118C>T

NM_001284401.2

p.P137L

c.410C>T

NM_001284401.2

p.P137_V138Splc

c.411+1G>T

NM_001284401.2

p.I179V

c.535A>G

NM_001284401.2

p.N269insFs

c.806dupA

NM_001284401.2

p.R36G

c.106C>G

NM_001284401.2

p.Q37K

c.109C>A

NM_001284401.2

p.P40P

c.120G>C

NM_001284401.2

p.P40delins

c.118_120delinsTCC

NM_001284401.2

p.T54S

c.160A>T

NM_001284401.2

p.L76L

c.228A>G