Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 95 variants

NM_001391956.1

p.E398insFs

c.1192dupG

NM_001391956.1

p.R1395*

c.4183C>T

NM_001391956.1

p.E398fs

c.1192_1193fs

NM_001391956.1

p.R642W

c.1924C>T

NM_001391956.1

p.S2insFs

c.4dupT

NM_001391956.1

p.P37Q

c.110C>A

NM_001391956.1

p.Q49_V50Splc

c.147+1234C>T

NM_001391956.1

p.R58*

c.172C>T

NM_001391956.1

p.S73C

c.218C>G

NM_001391956.1

p.A78T

c.232G>A

NM_001391956.1

p.K80_G81Splc

c.240+3531C>G

NM_001391956.1

p.Q111E

c.331C>G