Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 47 variants

NM_019110.5

p.L22F

c.64C>T

NM_019110.5

p.S544del1

c.1630_1631delTGA

NM_019110.5

p.M1delFs

c.1delT

NM_019110.5

p.M1fs

c.1_2fs

NM_019110.5

p.A10D

c.29C>A

NM_019110.5

p.K29E

c.85A>G

NM_019110.5

p.S33F

c.98C>T

NM_019110.5

p.A34V

c.101C>T

NM_019110.5

p.R40K

c.119G>A

NM_019110.5

p.G48fs

c.142_143fs

NM_019110.5

p.G48delFs

c.143_144delGC

NM_019110.5

p.E76D

c.228A>T