Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_001364171.2

p.P505L

c.1514C>T

Surrounding Variants

NM_144577.4

p.E471*

c.1411G>T

NM_001364171.2

p.L527_V528Splc

c.1582-16T>C

NM_001364171.2

p.A545Fs

c.1634delinsCAAFs

NM_001364171.2

p.S559N

c.1676G>A

NM_001364171.2

p.G564S

c.1690G>A

NM_001364171.2

p.G564D

c.1691G>A

NM_001364171.2

p.H576_A577insFs

c.1728_1729insTG

NM_144577.4

p.L464Splc

c.1391+7C>T

NM_001364171.2

p.L501Splc

c.1502+5G>A

NM_144577.4

p.L464Splc

c.1391+5G>A

NM_001364171.2

p.D499Y

c.1495G>T

NM_001364171.2

p.Q496*

c.1486C>T

NM_144577.4

p.L572*

c.1715T>A