Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 17 variants

NM_001318939.2

p.P33S

c.97C>T

NM_001318939.2

p.Q57R

c.170A>G

NM_001318939.2

p.L61L

c.183G>A

NM_001318939.2

p.G74D

c.221G>A

NM_001318939.2

p.I101V

c.301A>G

NM_001318939.2

p.Y111D

c.331T>G

NM_001318939.2

p.I116I

c.348T>C

NM_001318939.2

p.R129K

c.386G>A

NM_001318939.2

p.S146L

c.437C>T

NM_001318939.2

p.C149_L150insFs

c.447_448insG

NM_001318939.2

p.C149*

c.447T>A

NM_001318939.2

p.L150fs

c.448_449fs