Varaico: Literature-Extracted Genetic Variants

Gene:AKAP3
Variant:p.P560L

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.P560L
c.1679C>T
Surrounding Variants
1 paper
NM_001278309.2
p.P564H
c.1691C>A
1 paper
NM_001278309.2
p.E552*
c.1654G>T
1 paper
NM_001278309.2
p.E570Q
c.1708G>C
1 paper
NM_001278309.2
p.I578I
c.1734T>C
1 paper
NM_001278309.2
p.Q541K
c.1621C>A
1 paper
NM_001278309.2
p.E586*
c.1756G>T
1 paper
NM_001278309.2
p.K587R
c.1760A>G
1 paper
NM_001278309.2
p.L533I
c.1597C>A
1 paper
NM_001278309.2
p.S592delFs
c.1774_1775delCT
7 papers
NM_001278309.2
p.E525K
c.1573G>A
1 paper
NM_001278309.2
p.R599W
c.1795C>T
1 paper
NM_001278309.2
p.M517I
c.1551G>T
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