Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_001364171.2

p.F129_T130ins1

c.387_388insCGT

Surrounding Variants

NM_144577.4

p.K96fs

c.286_287fs

NM_144577.4

p.K96delFs

c.287delT

NM_001364171.2

p.W124*

c.372G>A

NM_001364171.2

p.P138delFs

c.413delG

NM_001364171.2

p.K147*

c.439A>T

NM_001364171.2

p.R150*

c.448C>T

NM_144577.4

p.R113*

c.337C>T

NM_001364171.2

p.D194D

c.582C>T

NM_144577.4

p.K162_E163Splc

c.486+1G>A

NM_001364171.2

p.K199_E200Splc

c.598-2A>G

NM_144577.4

p.K162_E163Splc

c.487-2A>G

NM_001364171.2

p.K199_E200Splc

c.598-2A>C

NM_001364171.2

p.E200fs

c.598_599fs

NM_144577.4

p.Q76*

c.226C>T

NM_001364171.2

p.Q113*

c.337C>T