Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 146 variants

NM_001079675.5

p.R437C

c.1309C>T

NM_001079675.5

p.E30K

c.88G>A

NM_001079675.5

p.K6*

c.16A>T

NM_001079675.5

p.P133delFs

c.399delG

NM_001079675.5

p.R160W

c.478C>T

NM_001079675.5

p.H175N

c.523C>A

NM_001079675.5

p.V247I

c.739G>A

NM_001079675.5

p.D72N

c.214G>A

NM_001079675.5

p.R103H

c.308G>A

NM_001079675.5

p.R134fs

c.400_401fs

NM_001079675.5

p.S166C

c.497C>G

NM_001079675.5

p.F195I

c.583T>A