Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 66 variants

NM_030647.2

p.R644S

c.1930C>A

NM_030647.2

p.S727W

c.2180C>G

NM_030647.2

p.R97delFs

c.289delT

NM_030647.2

p.R127C

c.379C>T

NM_030647.2

p.S866L

c.2597C>T

NM_030647.2

p.A25T

c.73G>A

NM_030647.2

p.A25G

c.74C>G

NM_030647.2

p.P34A

c.100C>G

NM_030647.2

p.P35_P36insFs

c.105_106insC

NM_030647.2

p.R50C

c.148C>T

NM_030647.2

p.F62V

c.184T>G

NM_030647.2

p.R97fs

c.289_290fs