Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 40 variants

NM_001366318.2

p.K7R

c.20A>G

NM_001366318.2

p.G102R

c.304G>C

NM_001366318.2

p.R211H

c.632G>A

NM_001366318.2

p.A302delFs

c.904_905delGC

NM_001366318.2

p.Q334delFs

c.1000delC

NM_001366318.2

p.N362N

c.1086T>C

NM_001366318.2

p.T393delFs

c.1177delA

NM_001366318.2

p.Q437*

c.1309C>T

NM_001366318.2

p.R487delFs

c.1459_1460delCG

NM_001366318.2

p.A697V

c.2090C>T

NM_001366318.2

p.H737Y

c.2209C>T

NM_001366318.2

p.N795T

c.2384A>C