Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 104 variants

NM_001170754.2

p.I286T

c.857T>C

NM_001170754.2

p.A353T

c.1057G>A

NM_001170754.2

p.R113*

c.337C>T

NM_001170754.2

p.K430_K431Splc

c.1290+2C>T

NM_001170754.2

p.A592V

c.1775C>T

NM_001170754.2

p.R713C

c.2137C>T

NM_001170754.2

p.Y285*

c.855C>G

NM_001170754.2

p.Y285*

c.855C>A

NM_001170754.2

p.R423Q

c.1268G>A

NM_001170754.2

p.S517C

c.1550C>G

NM_001170754.2

p.R527*

c.1579C>T

NM_001170754.2

p.V749fs

c.2245_2246fs