Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 75 variants

NM_001177676.2

p.L74P

c.221T>C

NM_001177676.2

p.E149Q

c.445G>C

NM_001177676.2

p.K223fs

c.667_668fs

NM_001177676.2

p.K223delFs

c.667_668delTT

NM_001177676.2

p.E336*

c.1006G>T

NM_001177676.2

p.V27fs

c.79_80fs

NM_001177676.2

p.V26_Y28Fs

c.78_83delinsCFs

NM_001177676.2

p.R210R

c.630C>T

NM_001177676.2

p.P283P

c.849C>A

NM_001177676.2

p.G2A

c.5G>C

NM_001177676.2

p.N3Fs

c.7delinsTGGTCFs

NM_001177676.2

p.T18S

c.52A>T