Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_000688.6

p.S193Splc

c.578-32C>T

Surrounding Variants

NM_000688.6

p.S193Splc

c.578-53T>C

NM_000688.6

p.E204D

c.612G>T

NM_000688.6

p.E209K

c.625G>A

NM_000688.6

p.K211K

c.633G>A

NM_000688.6

p.V222M

c.664G>A

NM_000688.6

p.N223_D233del0

c.669_698del30

NM_000688.6

p.R225G

c.673C>G

NM_000688.6

p.R225*

c.673C>T

NM_000688.6

p.R225Q

c.674G>A

NM_000688.6

p.D234D

c.702C>T

NM_000688.6

p.L239insFs

c.716_717insC

NM_000688.6

p.S257_R258insFs

c.771_772insT