Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 349 variants

NM_001378418.1

p.K512E

c.1534A>G

NM_001378418.1

p.Q833*

c.2497C>T

NM_001378418.1

p.R1907*

c.5719C>T

NM_001378418.1

p.Q129*

c.385C>T

NM_001378418.1

p.Q319*

c.955C>T

NM_001378418.1

p.S722G

c.2164A>G

NM_001378418.1

p.K1173delFs

c.3518delT

NM_001378418.1

p.Q178_Q179del1

c.534_536delTGC

NM_001378418.1

p.K1173fs

c.3517_3518fs

NM_001378418.1

p.C1795_G1796delFs

c.5385_5386delCA

NM_001378418.1

p.P1942delFs

c.5826delG

NM_001378418.1

p.M1V

c.1A>G