Varaico: Literature-Extracted Genetic Variants

Gene:AKAP7
Variant:p.D48G

AKAP7

47 papers

RefSeq Summary

This gene encodes a member of the A-kinase anchoring protein (AKAP) family, a group of functionally related proteins that bind to a regulatory subunit (RII) of cAMP-dependent protein kinase A (PKA) an...

Pfam Domains

AKAP7_NLSaa 85–283UCSCAKAP7 2'5' RNA ligase-like domain
AKAP7_RIRII_bdgaa 289–345UCSCPKA-RI-RII subunit binding domain of A-kinase anchor protein

Gene Aliases

HGNC Name

A-kinase anchoring protein 7

HGNC Alias Symbols

AKAP18; AKAP15

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_016377.4
p.D48G
c.143A>G
Surrounding Variants
1 paper
NM_016377.4
p.E26K
c.76G>A
1 paper
NM_016377.4
p.N12K
c.36T>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."