Varaico: Literature-Extracted Genetic Variants

Gene:AKAP1
Variant:p.E558Q

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.E558Q
c.1672G>C
Surrounding Variants
1 paper
NM_003488.4
p.A557S
c.1669G>T
1 paper
NM_003488.4
p.L536L
c.1608G>A
1 paper
NM_003488.4
p.T533P
c.1597A>C
1 paper
NM_003488.4
p.S525L
c.1574C>T
1 paper
NM_003488.4
p.S494N
c.1481G>A
1 paper
NM_003488.4
p.D493G
c.1478A>G
1 paper
NM_003488.4
p.D484V
c.1451A>T
1 paper
NM_003488.4
p.L461fs
c.1381_1382fs
1 paper
NM_003488.4
p.L461insFs
c.1382_1383insT
1 paper
NM_003488.4
p.S441R
c.1323C>A
1 paper
NM_003488.4
p.S441R
c.1323C>G
1 paper
NM_003488.4
p.S441R
c.1321A>C
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