Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_001143986.2

p.S60S

c.180G>A

Surrounding Variants

NM_001143986.2

p.Q74H

c.222G>C

NM_001143986.2

p.Q74H

c.222G>T

NM_001143986.2

p.Q74_I75Splc

c.222+1G>T

NM_001143986.2

p.R39insFs

c.115_116insT

NM_001143986.2

p.G35_F43delFs

c.105_129del25

NM_001143986.2

p.P18insFs

c.53_54insCC

NM_001143986.2

p.S17_P18Splc

c.52-9C>G

NM_001143986.2

p.S17S

c.51G>A

NM_001143986.2

p.S17*

c.50C>A

NM_001143986.2

p.P13insFs

c.38dupC

NM_001143986.2

p.R8S

c.24A>C

NM_001143986.2

p.R8S

c.24A>T