Varaico: Literature-Extracted Genetic Variants

Gene:AKAP3
Variant:p.I500T

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
6 papers
NM_001278309.2
p.I500T
c.1499T>C
Surrounding Variants
1 paper
NM_001278309.2
p.P488S
c.1462C>T
1 paper
NM_001278309.2
p.R486H
c.1457G>A
1 paper
NM_001278309.2
p.E514D
c.1542G>T
1 paper
NM_001278309.2
p.E514D
c.1542G>C
1 paper
NM_001278309.2
p.R486C
c.1456C>T
1 paper
NM_001278309.2
p.M517I
c.1551G>T
1 paper
NM_001278309.2
p.M517I
c.1551G>C
1 paper
NM_001278309.2
p.M517I
c.1551G>A
4 papers
NM_001278309.2
p.F479F
c.1437T>C
7 papers
NM_001278309.2
p.E525K
c.1573G>A
1 paper
NM_001278309.2
p.E468*
c.1402G>T
1 paper
NM_001278309.2
p.L533I
c.1597C>A
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