Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 32 variants

NM_001145004.2

p.I459insFs

c.1376_1377insTC

NM_001145004.2

p.R460fs

c.1378_1379fs

NM_001145004.2

p.E461fs

c.1381_1382fs

NM_001145004.2

p.R460_E461delFs

c.1380_1381delCC

NM_001145004.2

p.R596Q

c.1787G>A

NM_001145004.2

p.T201T

c.603G>C

NM_001145004.2

p.L239Q

c.716T>A

NM_001145004.2

p.A253V

c.758C>T

NM_001145004.2

p.R319Q

c.956G>A

NM_001145004.2

p.Q356L

c.1067A>T

NM_001145004.2

p.Q400H

c.1200G>C

NM_001145004.2

p.M472I

c.1416G>T