Varaico: Literature-Extracted Genetic Variants

Gene:AKAP14

AKAP14

15 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

AKAP28aa 67–187UCSC28 kDa A-kinase anchor

Gene Aliases

HGNC Name

A-kinase anchoring protein 14

HGNC Alias Symbol

AKAP28

Papers
RefSeq ID
Protein change
DNA change
2 papers
NM_178813.6
p.D83Y
c.247G>T
2 papers
NM_178813.6
p.V128I
c.382G>A
1 paper
NM_178813.6
p.A19P
c.55G>C
1 paper
NM_178813.6
p.A42P
c.124G>C
1 paper
NM_178813.6
p.E72K
c.214G>A
1 paper
NM_178813.6
p.L107F
c.321A>C
1 paper
NM_178813.6
p.L107F
c.321A>T
1 paper
NM_178813.6
p.I114V
c.340A>G
1 paper
NM_178813.6
p.V128E
c.383T>A
1 paper
NM_178813.6
p.V128V
c.384A>G
1 paper
NM_178813.6
p.A129G
c.386C>G
1 paper
NM_178813.6
p.P166Q
c.497C>A
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