Varaico: Literature-Extracted Genetic Variants

Gene:AKAP3
Variant:p.E164K

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
1 paper
NM_001278309.2
p.E164K
c.490G>A
Surrounding Variants
1 paper
NM_001278309.2
p.M161V
c.481A>G
1 paper
NM_001278309.2
p.I174V
c.520A>G
1 paper
NM_001278309.2
p.I143_E145del3
c.427_434del9
1 paper
NM_001278309.2
p.P192L
c.575C>T
1 paper
NM_001278309.2
p.P196S
c.586C>T
1 paper
NM_001278309.2
p.G197S
c.589G>A
1 paper
NM_001278309.2
p.F126_Y127delFs
c.378_379delAG
1 paper
NM_001278309.2
p.R201_V202insFs
c.603_604insG
3 papers
NM_001278309.2
p.S203S
c.609G>A
1 paper
NM_001278309.2
p.G204G
c.612A>T
1 paper
NM_001278309.2
p.E123K
c.367G>A
1 paper
NM_001278309.2
p.S206delFs
c.616delA
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