Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_001143986.2

p.E95_V96Splc

c.286-7G>A

Surrounding Variants

NM_001143986.2

p.T114delFs

c.341_342delCC

NM_001143986.2

p.L115_Q116insT

c.343_347ins3

NM_001143986.2

p.D130N

c.388G>A

NM_001143986.2

p.S84_C85delFs

c.250_253del4

NM_001143986.2

p.E143*

c.427G>T

NM_001143986.2

p.H156Y

c.466C>T

NM_001143986.2

p.L159delFs

c.475_476delCT

NM_001143986.2

p.L159_T160delFs

c.475_478del4

NM_001143986.2

p.L159fs

c.475_476fs

NM_001143986.2

p.E161G

c.482A>G

NM_001143986.2

p.Q181Splc

c.541+1G>A

NM_001143986.2

p.C196*

c.588T>A