Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 80 variants

NM_001204077.2

p.W128*

c.383G>A

NM_001204077.2

p.W128*

c.384G>A

NM_001204077.2

p.L491M

c.1471T>A

NM_001204077.2

p.P343L

c.1028C>T

NM_001204077.2

p.N9delFs

c.25_26delAA

NM_001204077.2

p.N13D

c.37A>G

NM_001204077.2

p.A17S

c.49G>T

NM_001204077.2

p.A25_K26del2

c.73_77del6

NM_001204077.2

p.A25_K26delFs

c.75_78del4

NM_001204077.2

p.I31S

c.92T>G

NM_001204077.2

p.S50S

c.150G>A

NM_001204077.2

p.R70C

c.208C>T