Varaico: Literature-Extracted Genetic Variants

Gene:AKAP1
Variant:p.C102Y

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
1 paper
NM_003488.4
p.C102Y
c.305G>A
Surrounding Variants
1 paper
NM_003488.4
p.S108_I110delFs
c.323_330del8
1 paper
NM_003488.4
p.S108L
c.323C>T
1 paper
NM_003488.4
p.P112R
c.335C>G
1 paper
NM_003488.4
p.T115T
c.345A>G
1 paper
NM_003488.4
p.R124C
c.370C>T
3 papers
NM_003488.4
p.D126D
c.378T>C
1 paper
NM_003488.4
p.D127N
c.379G>A
1 paper
NM_003488.4
p.V74F
c.220G>T
1 paper
NM_003488.4
p.V60M
c.178G>A
1 paper
NM_003488.4
p.I54L
c.160A>C
1 paper
NM_003488.4
p.D51D
c.153C>T
2 papers
NM_003488.4
p.V155A
c.464T>C
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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."