Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 341 variants

NM_001378120.1

p.K114_M116delFs

c.340_347del8

NM_001378120.1

p.G79E

c.236G>A

NM_001378120.1

p.R85delFs

c.254_255delGA

NM_001378120.1

p.V50delFs

c.150delT

NM_001378120.1

p.R85fs

c.253_254fs

NM_001378120.1

p.T52fs

c.154_155fs

NM_001378120.1

p.K114fs

c.340_341fs

NM_001378120.1

p.S147*

c.440C>G

NM_001378120.1

p.T157fs

c.469_470fs

NM_001378120.1

p.P340_Q347del8

c.1018_1040del24

NM_001378120.1

p.A725delFs

c.2173delG

NM_001378120.1

p.K72_V73Splc

c.217-1G>C