Varaico: Literature-Extracted Genetic Variants

Gene:AKAP5
Variant:p.E2Q

AKAP5

100 papers

RefSeq Summary

The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoe...

Pfam Domains

WSKaa 76–102UCSCWSK motif

Gene Aliases

HGNC Name

A-kinase anchoring protein 5

HGNC Alias Symbols

AKAP75; AKAP79

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004857.3
p.E2Q
c.4G>C
Surrounding Variants
1 paper
NM_004857.3
p.T3A
c.7A>G
1 paper
NM_004857.3
p.I5S
c.14T>G
2 papers
NM_004857.3
p.N12K
c.36C>A
2 papers
NM_004857.3
p.N12K
c.36C>G
1 paper
NM_004857.3
p.P23L
c.68C>T
1 paper
NM_004857.3
p.K41E
c.121A>G
1 paper
NM_004857.3
p.K41R
c.122A>G
1 paper
NM_004857.3
p.P49S
c.145C>T
1 paper
NM_004857.3
p.A51A
c.153T>A
1 paper
NM_004857.3
p.E54G
c.161A>G
1 paper
NM_004857.3
p.E54E
c.162A>G
1 paper
NM_004857.3
p.K61K
c.183G>A
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