Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_014231.5

p.Q78P

c.233A>C

Surrounding Variants

NM_014231.5

p.S81N

c.242G>A

NM_014231.5

p.R68*

c.202C>T

NM_014231.5

p.D66A

c.197A>C

NM_014231.5

p.N51_E64del14

c.151_191del42

NM_014231.5

p.E64*

c.190G>T

NM_014231.5

p.N94H

c.280A>C

NM_014231.5

p.R49P

c.146G>C

NM_014231.5

p.E43_V44Splc

c.129+5G>A

NM_014231.5

p.E43_V44Splc

c.129+2T>G

NM_014231.5

p.E43_V44Splc

c.129+1G>A

NM_014231.5

p.E43delFs

c.128_129delCT

NM_014231.5

p.E43fs

c.127_128fs