Varaico: Literature-Extracted Genetic Variants

Gene:AKAP1
Variant:p.K616_H617Splc

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.K616_H617Splc
c.1848+40C>T
Surrounding Variants
1 paper
NM_003488.4
p.P602S
c.1804C>T
1 paper
NM_003488.4
p.N601_P602delins
c.1803_1804delinsTT
1 paper
NM_003488.4
p.S600A
c.1798T>G
2 papers
NM_003488.4
p.R621W
c.1861C>T
1 paper
NM_003488.4
p.R621Q
c.1862G>A
1 paper
NM_003488.4
p.R628H
c.1883G>A
1 paper
NM_003488.4
p.P647S
c.1939C>T
1 paper
NM_003488.4
p.S651N
c.1952G>A
1 paper
NM_003488.4
p.P686S
c.2056C>T
1 paper
NM_003488.4
p.S690T
c.2068T>A
1 paper
NM_003488.4
p.W701_L702Splc
c.2103+6C>T
1 paper
NM_003488.4
p.E558Q
c.1672G>C
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