Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 51 variants

NM_001168468.2

p.E202*

c.604G>T

NM_001168468.2

p.T10A

c.28A>G

NM_001168468.2

p.L23del1

c.67_68delCTG

NM_001168468.2

p.E34K

c.100G>A

NM_001168468.2

p.D37N

c.109G>A

NM_001168468.2

p.P47fs

c.139_140fs

NM_001168468.2

p.P47R

c.140C>G

NM_001168468.2

p.K54fs

c.160_161fs

NM_001168468.2

p.K58N

c.174G>C

NM_001168468.2

p.K58N

c.174G>T

NM_001168468.2

p.P80fs

c.238_239fs

NM_001168468.2

p.A97A

c.291G>A