Varaico: Literature-Extracted Genetic Variants

Gene:AKAP1
Variant:p.D297D

AKAP1

99 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

KH_1aa 609–673UCSCKH domain
TUDORaa 704–828UCSCTudor domain

Gene Aliases

HGNC Name

A-kinase anchoring protein 1

HGNC Previous Symbol

PRKA1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_003488.4
p.D297D
c.891T>C
Surrounding Variants
1 paper
NM_003488.4
p.E301K
c.901G>A
1 paper
NM_003488.4
p.G323_E329ins2
c.967_987dup21
1 paper
NM_003488.4
p.S309fs
c.925_926fs
1 paper
NM_003488.4
p.S309delFs
c.926delG
1 paper
NM_003488.4
p.G316S
c.946G>A
1 paper
NM_003488.4
p.G323_S330del8
c.967_989del24
1 paper
NM_003488.4
p.G323_S330del0
c.968_988del21
1 paper
NM_003488.4
p.S330G
c.988A>G
1 paper
NM_003488.4
p.E336D
c.1008G>C
1 paper
NM_003488.4
p.E336D
c.1008G>T
1 paper
NM_003488.4
p.A347P
c.1039G>C
2 papers
NM_003488.4
p.A348T
c.1042G>A
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