Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 16 variants

NM_001135179.2

p.C157S

c.469T>A

NM_001135179.2

p.C157S

c.470G>C

NM_001135179.2

p.N11N

c.33C>T

NM_001135179.2

p.G42D

c.125G>A

NM_001135179.2

p.D101D

c.303C>T

NM_001135179.2

p.E116*

c.346G>T

NM_001135179.2

p.E116K

c.346G>A

NM_001135179.2

p.C143S

c.427T>A

NM_001135179.2

p.C143S

c.428G>C

NM_001135179.2

p.C149S

c.445T>A

NM_001135179.2

p.C149S

c.446G>C

NM_001135179.2

p.C163S

c.487T>A