Varaico: Literature-Extracted Genetic Variants

Gene:AKAP3
Variant:p.R269*

AKAP3

103 papers

RefSeq Summary

This gene encodes a member of A-kinase anchoring proteins (AKAPs), a family of functionally related proteins that target protein kinase A to discrete locations within the cell. The encoded protein is ...

Pfam Domains

AKAP_110aa 166–853UCSCA-kinase anchor protein 110 kDa (AKAP 110)

Gene Aliases

HGNC Name

A-kinase anchoring protein 3

HGNC Alias Symbols

FSP95; SOB1; AKAP110; CT82

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001278309.2
p.R269*
c.805C>T
Surrounding Variants
1 paper
NM_001278309.2
p.R265K
c.794G>A
1 paper
NM_001278309.2
p.D275Y
c.823G>T
1 paper
NM_001278309.2
p.D276E
c.828C>G
2 papers
NM_001278309.2
p.R259S
c.777G>T
2 papers
NM_001278309.2
p.R259S
c.777G>C
1 paper
NM_001278309.2
p.G251A
c.752G>C
2 papers
NM_001278309.2
p.N250N
c.750T>C
1 paper
NM_001278309.2
p.V293L
c.877G>T
1 paper
NM_001278309.2
p.V293L
c.877G>C
1 paper
NM_001278309.2
p.S294F
c.881C>T
1 paper
NM_001278309.2
p.V298I
c.892G>A
1 paper
NM_001278309.2
p.S239insFs
c.715dupT
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