Varaico: Literature-Extracted Genetic Variants

Gene:AKAP5
Variant:p.W79_A80insFs

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.W79_A80insFs
c.237_238insA
Surrounding Variants
1 paper
NM_004857.3
p.L82P
c.245T>C
1 paper
NM_004857.3
p.L82insFs
c.245_246insA
2 papers
NM_004857.3
p.R84H
c.251G>A
1 paper
NM_004857.3
p.V86A
c.257T>C
1 paper
NM_004857.3
p.R88H
c.263G>A
3 papers
NM_004857.3
p.R91W
c.271A>T
1 paper
NM_004857.3
p.S94T
c.280T>A
1 paper
NM_004857.3
p.S95A
c.283T>G
1 paper
NM_004857.3
p.K61K
c.183G>A
1 paper
NM_004857.3
p.Q98Q
c.294A>G
5 papers
NM_004857.3
p.P100L
c.299C>T
1 paper
NM_004857.3
p.E104K
c.310G>A
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