Varaico: Literature-Extracted Genetic Variants

Gene:AKAP3
Variant:p.T464insFs

AKAP3

103 papers

RefSeq Summary

This gene encodes a member of A-kinase anchoring proteins (AKAPs), a family of functionally related proteins that target protein kinase A to discrete locations within the cell. The encoded protein is ...

Pfam Domains

AKAP_110aa 166–853UCSCA-kinase anchor protein 110 kDa (AKAP 110)

Gene Aliases

HGNC Name

A-kinase anchoring protein 3

HGNC Alias Symbols

FSP95; SOB1; AKAP110; CT82

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001278309.2
p.T464insFs
c.1391_1392insG
Surrounding Variants
6 papers
NM_001278309.2
p.T464S
c.1391C>G
1 paper
NM_001278309.2
p.T464fs
c.1390_1391fs
5 papers
NM_001278309.2
p.T464S
c.1390A>T
1 paper
NM_001278309.2
p.E468*
c.1402G>T
4 papers
NM_001278309.2
p.L460L
c.1378T>C
1 paper
NM_001278309.2
p.K455I
c.1364A>T
4 papers
NM_001278309.2
p.F479F
c.1437T>C
1 paper
NM_001278309.2
p.R486C
c.1456C>T
1 paper
NM_001278309.2
p.R486H
c.1457G>A
1 paper
NM_001278309.2
p.P488S
c.1462C>T
6 papers
NM_001278309.2
p.I500T
c.1499T>C
1 paper
NM_001278309.2
p.E427Q
c.1279G>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."