Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 80 variants

NM_001242809.2

p.I128V

c.382A>G

NM_001242809.2

p.T233M

c.698C>T

NM_001242809.2

p.Q122E

c.364C>G

NM_001242809.2

p.P548L

c.1643C>T

NM_001242809.2

p.R632H

c.1895G>A

NM_001242809.2

p.R13H

c.38G>A

NM_001242809.2

p.T88M

c.263C>T

NM_001242809.2

p.R270H

c.809G>A

NM_001242809.2

p.A550T

c.1648G>A

NM_001242809.2

p.T23fs

c.67_68fs

NM_001242809.2

p.Q28*

c.82C>T

NM_001242809.2

p.K40_H41Splc

c.120+6056C>T