Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 17 variants

NM_001085457.2

p.E288D

c.864A>T

NM_001085457.2

p.E288D

c.864A>C

NM_001085457.2

p.D159N

c.475G>A

NM_001085457.2

p.T218M

c.653C>T

NM_001085457.2

p.K259insFs

c.777dupA

NM_001085457.2

p.L260fs

c.778_779fs

NM_001085457.2

p.S78F

c.233C>T

NM_001085457.2

p.G81Splc

c.241+1G>T

NM_001085457.2

p.W100R

c.298T>C

NM_001085457.2

p.W100R

c.298T>A

NM_001085457.2

p.D132Y

c.394G>T

NM_001085457.2

p.G144Splc

c.430+2T>C