Varaico: Literature-Extracted Genetic Variants

Gene:AKAP3
Variant:p.D24E

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.D24E
c.72C>A
Surrounding Variants
4 papers
NM_001278309.2
p.C15Y
c.44G>A
1 paper
NM_001278309.2
p.N12S
c.35A>G
1 paper
NM_001278309.2
p.M1insFs
c.3dupG
1 paper
NM_001278309.2
p.M1insFs
c.2dupT
1 paper
NM_001278309.2
p.M1delFs
c.2delA
1 paper
NM_001278309.2
p.M1T
c.2T>C
1 paper
NM_001278309.2
p.M32_D33Splc
c.96+2058G>A
1 paper
NM_001278309.2
p.M32_D33Splc
c.96+2074A>G
1 paper
NM_001278309.2
p.M32_D33Splc
c.96+2097C>T
1 paper
NM_001278309.2
p.M32_D33Splc
c.96+2613G>A
1 paper
NM_001278309.2
p.M32_D33Splc
c.97-2544T>A
1 paper
NM_001278309.2
p.T34I
c.101C>T
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