Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 15 variants

NM_001164458.2

p.F2F

c.6C>T

NM_001164458.2

p.T33T

c.99A>G

NM_001164458.2

p.M164V

c.490A>G

NM_001164458.2

p.E3insFs

c.7_8insG

NM_001164458.2

p.G36V

c.107G>T

NM_001164458.2

p.V38F

c.112G>T

NM_001164458.2

p.V51_A52Splc

c.153+68T>A

NM_001164458.2

p.F74Y

c.221T>A

NM_001164458.2

p.K99_E100Splc

c.297+242C>T

NM_001164458.2

p.K101N

c.303A>T

NM_001164458.2

p.K101N

c.303A>C

NM_001164458.2

p.Q121delins

c.361_362delinsTG