Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 65 variants

NM_017952.6

p.F583insFs

c.1747_1748insCT

NM_017952.6

p.F583fs

c.1747_1748fs

NM_017952.6

p.P640A

c.1918C>G

NM_017952.6

p.V70I

c.208G>A

NM_017952.6

p.P138_C139Splc

c.415-2A>G

NM_017952.6

p.A179A

c.537A>G

NM_017952.6

p.T237delFs

c.710delC

NM_017952.6

p.T301I

c.902C>T

NM_017952.6

p.S681G

c.2041A>G

NM_017952.6

p.A6V

c.17C>T

NM_017952.6

p.R8C

c.22C>T

NM_017952.6

p.R8L

c.23G>T