Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_001141947.3

p.S182Splc

c.545-14A>G

Surrounding Variants

NM_001141947.3

p.S182Splc

c.545-3T>G

NM_001141947.3

p.E198K

c.592G>A

NM_001141947.3

p.I200T

c.599T>C

NM_001012506.5

p.E174insFs

c.521_522insA

NM_001141947.3

p.P214delFs

c.641delC

NM_001141947.3

p.Q225Q

c.675G>A

NM_001141947.3

p.Q230*

c.688C>T

NM_001141947.3

p.C231_E232delFs

c.693_694delTG

NM_001141947.3

p.C231*

c.693T>A

NM_001141947.3

p.I235_A236insFs

c.705_706insT

NM_001141947.3

p.E238V

c.713A>T

NM_001141947.3

p.K242ins1

c.724_725insCTC