Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 93 variants

NM_181782.5

p.S399A

c.1195T>G

NM_181782.5

p.K584E

c.1750A>G

NM_181782.5

p.S165del1

c.493_494delAGT

NM_181782.5

p.E748_I749Splc

c.2244+3G>A

NM_181782.5

p.R913*

c.2737C>T

NM_181782.5

p.R17G

c.49C>G

NM_181782.5

p.K20N

c.60G>C

NM_181782.5

p.K20N

c.60G>T

NM_181782.5

p.K21delFs

c.61delA

NM_181782.5

p.V34I

c.100G>A

NM_181782.5

p.G41G

c.123G>A

NM_181782.5

p.N45S

c.134A>G