Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 294 variants

NM_001400225.1

p.T716S

c.2146A>T

NM_001400225.1

p.T716S

c.2147C>G

NM_001400225.1

p.Q974del1

c.2920_2921delCAG

NM_001400225.1

p.L1186S

c.3557T>C

NM_001400225.1

p.V3059G

c.9176T>G

NM_001400225.1

p.I7M

c.21T>G

NM_001400225.1

p.I40insFs

c.118_119insGT

NM_001400225.1

p.N118_L119insGT

c.352_356ins6

NM_001400225.1

p.C623*

c.1869T>A

NM_001400225.1

p.E685fs

c.2053_2054fs

NM_001400225.1

p.S812*

c.2435C>A

NM_001400225.1

p.S812*

c.2435C>G