Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 15 variants

NM_001005178.1

p.L254Q

c.761T>A

NM_001005178.1

p.L7insFs

c.20dupT

NM_001005178.1

p.D57N

c.169G>A

NM_001005178.1

p.T74_D75delFs

c.222_225del4

NM_001005178.1

p.T74fs

c.220_221fs

NM_001005178.1

p.L87P

c.260T>C

NM_001005178.1

p.M123V

c.367A>G

NM_001005178.1

p.R127H

c.380G>A

NM_001005178.1

p.A210T

c.628G>A

NM_001005178.1

p.S212S

c.636A>C

NM_001005178.1

p.I226T

c.677T>C

NM_001005178.1

p.H239Y

c.715C>T