Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 23 variants

NM_001139442.2

p.G121S

c.361G>A

NM_001139442.2

p.Y596C

c.1787A>G

NM_001139442.2

p.A11T

c.31G>A

NM_001139442.2

p.R42C

c.124C>T

NM_001139442.2

p.C53Y

c.158G>A

NM_001139442.2

p.V80ins1

c.239_240insCGG

NM_001139442.2

p.E74_P85del0

c.222_254del33

NM_001139442.2

p.G158A

c.473G>C

NM_001139442.2

p.D239_P240insCGG

c.715_719ins9

NM_001139442.2

p.V248L

c.742G>T

NM_001139442.2

p.C254R

c.760T>C

NM_001139442.2

p.I285delFs

c.853delT