Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 17 variants

NM_001010876.2

p.F80L

c.238T>C

NM_001010876.2

p.F80L

c.240T>G

NM_001010876.2

p.F80L

c.240T>A

NM_001010876.2

p.K11_V12Splc

c.33+8G>T

NM_001010876.2

p.V13F

c.37G>T

NM_001010876.2

p.V21A

c.62T>C

NM_001010876.2

p.C36G

c.106T>G

NM_001010876.2

p.V37M

c.109G>A

NM_001010876.2

p.T54I

c.161C>T

NM_001010876.2

p.S69*

c.206C>G

NM_001010876.2

p.C77fs

c.229_230fs

NM_001010876.2

p.V76_C77delFs

c.228_231del4