Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 67 variants

NM_005172.2

p.G71delFs

c.212delG

NM_005172.2

p.G71fs

c.211_212fs

NM_005172.2

p.D138E

c.414C>A

NM_005172.2

p.D138E

c.414C>G

NM_005172.2

p.H344delFs

c.1030delC

NM_005172.2

p.P95S

c.283C>T

NM_005172.2

p.R161G

c.481C>G

NM_005172.2

p.H237Q

c.711C>A

NM_005172.2

p.H237Q

c.711C>G

NM_005172.2

p.S331A

c.991T>G

NM_005172.2

p.L5_H6insFs

c.15_16insA

NM_005172.2

p.E12_V13insFs

c.36_37insC