Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 31 variants

NM_001365692.1

p.R17*

c.49C>T

NM_001365692.1

p.R17L

c.50G>T

NM_001365692.1

p.R27W

c.79C>T

NM_001365692.1

p.R36H

c.107G>A

NM_001365692.1

p.H40Y

c.118C>T

NM_001365692.1

p.P43L

c.128C>T

NM_001365692.1

p.P47fs

c.139_140fs

NM_001365692.1

p.P47S

c.139C>T

NM_001365692.1

p.Q54K

c.160C>A

NM_001365692.1

p.E85Q

c.253G>C

NM_001365692.1

p.T92_A93ins1

c.276_277insGAC

NM_001365692.1

p.Q95L

c.284A>T