Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 49 variants

NM_001318192.2

p.P452S

c.1354C>T

NM_001318192.2

p.M1K

c.2T>A

NM_001318192.2

p.L3V

c.7C>G

NM_001318192.2

p.R11L

c.32G>T

NM_001318192.2

p.L15V

c.43C>G

NM_001318192.2

p.S33_E34Splc

c.99+9C>T

NM_001318192.2

p.S33_E34Splc

c.100-130C>A

NM_001318192.2

p.F64I

c.190T>A

NM_001318192.2

p.P67S

c.199C>T

NM_001318192.2

p.P67R

c.200C>G

NM_001318192.2

p.L72fs

c.214_215fs

NM_001318192.2

p.V95M

c.283G>A