Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_001080539.2

p.M116fs

c.346_347fs

Surrounding Variants

NM_001080539.2

p.M116delFs

c.348delG

NM_001080539.2

p.E108K

c.322G>A

NM_001080539.2

p.R106H

c.317G>A

NM_001080539.2

p.R103Q

c.308G>A

NM_001080539.2

p.R103*

c.307C>T

NM_001080539.2

p.Q130*

c.388C>T

NM_001080539.2

p.C97*

c.291T>A

NM_001080539.2

p.C97fs

c.289_290fs

NM_001080539.2

p.C97_E98delFs

c.291_292delTG

NM_001080539.2

p.L68*

c.203T>A

NM_001080539.2

p.L68*

c.203T>G

NM_001080539.2

p.R59Splc

c.177-1G>A