Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 33 variants

NM_020465.4

p.T256M

c.767C>T

NM_001130487.2

p.T56delFs

c.167_168delCA

NM_001242835.2

p.G7_E8Splc

c.21+7G>C

NM_001242835.2

p.L18V

c.52C>G

NM_001242835.2

p.P26_N29delFs

c.76_86del11

NM_001130487.2

p.I85V

c.253A>G

NM_001242835.2

p.T35N

c.104C>A

NM_001242835.2

p.Q73E

c.217C>G

NM_001242835.2

p.Q91E

c.271C>G

NM_001242835.2

p.A94fs

c.280_281fs

NM_001242835.2

p.A94delFs

c.281delC

NM_001242835.2

p.L96fs

c.286_287fs