Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

NM_001378034.2

p.F73L

c.217T>C

NM_001378034.2

p.F73L

c.219C>A

NM_001378034.2

p.F73L

c.219C>G

NM_001378034.2

p.G83R

c.247G>A

NM_001378034.2

p.G83W

c.247G>T

NM_001378034.2

p.D431H

c.1291G>C

NM_001378034.2

p.S743N

c.2228G>A

NM_001378034.2

p.K801Q

c.2401A>C

NM_001378034.2

p.E896delFs

c.2687delA