Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 18 variants

NM_001349018.2

p.E199delFs

c.596_597delCT

NM_001349018.2

p.E7K

c.19G>A

NM_001349018.2

p.V31Splc

c.92-2A>G

NM_001349018.2

p.E75K

c.223G>A

NM_001349018.2

p.E132*

c.394G>T

NM_001349018.2

p.A133S

c.397G>T

NM_001349018.2

p.S155L

c.464C>T

NM_001349018.2

p.E177K

c.529G>A

NM_001349018.2

p.E194Q

c.580G>C

NM_001349018.2

p.E199fs

c.595_596fs

NM_001349018.2

p.E199fs

c.595_596fs

NM_001349018.2

p.A210P

c.628G>C