Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 69 variants

NM_001276380.2

p.I550T

c.1649T>C

NM_001276380.2

p.D339Y

c.1015G>T

NM_001276380.2

p.K573del1

c.1717_1718delCTT

NM_001276380.2

p.R799Q

c.2396G>A

NM_001276380.2

p.R12W

c.34C>T

NM_001276380.2

p.R30G

c.88C>G

NM_001276380.2

p.H43Q

c.129T>A

NM_001276380.2

p.L49F

c.147G>T

NM_001276380.2

p.L49F

c.147G>C

NM_001276380.2

p.A52A

c.156C>T

NM_001276380.2

p.D73N

c.217G>A

NM_001276380.2

p.D85N

c.253G>A