Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 15 variants

NM_018461.5

p.V58ins1

c.172_173insAAG

NM_018461.5

p.P152L

c.455C>T

NM_018461.5

p.R154R

c.462G>A

NM_018461.5

p.P161_I162ins6

c.483_484ins18

NM_018461.5

p.R175Q

c.524G>A

NM_018461.5

p.H182Y

c.544C>T

NM_018461.5

p.N219Splc

c.655+1G>A

NM_018461.5

p.N219Splc

c.655+2T>C

NM_018461.5

p.N219Splc

c.655+6C>G

NM_018461.5

p.R258S

c.772C>A

NM_018461.5

p.E327K

c.979G>A

NM_018461.5

p.R377_D378delins

c.1131_1133delinsGCG