Varaico: Literature-Extracted Genetic Variants

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

2 papers

NM_016377.4

p.G207A

c.620G>C

Surrounding Variants

1 paper

NM_016377.4

p.G211R

c.631G>C

2 papers

NM_016377.4

p.S215N

c.644G>A

1 paper

NM_016377.4

p.K227R

c.680A>G

1 paper

NM_016377.4

p.R232H

c.695G>A

1 paper

NM_016377.4

p.K233E

c.697A>G