Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

NM_001130913.2

p.V9E

c.26T>A

NM_001130913.2

p.F55L

c.163T>C

NM_001130913.2

p.F55L

c.165T>A

NM_001130913.2

p.F55L

c.165T>G

NM_001130913.2

p.P75S

c.223C>T

NM_001130913.2

p.K88R

c.263A>G

NM_001130913.2

p.E116_E118del0

c.346_354del9

NM_001130913.2

p.S119C

c.355A>T

NM_001130913.2

p.*127insFs

c.380_381insAA