Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 15 variants

NM_001330617.2

p.S48L

c.143C>T

NM_001330617.2

p.T75_L76delFs

c.224_227del4

NM_001330617.2

p.F137I

c.409T>A

NM_001330617.2

p.N148K

c.444C>A

NM_001330617.2

p.N148K

c.444C>G

NM_001330617.2

p.E224_K227del4

c.670_680del12

NM_006959.3

p.T297I

c.890C>T

NM_001330617.2

p.H318Y

c.952C>T

NM_001330617.2

p.R400C

c.1198C>T

NM_001330617.2

p.V482M

c.1444G>A

NM_001330617.2

p.H522delFs

c.1564delC

NM_001330617.2

p.R545T

c.1634G>C