Varaico: Literature-Extracted Genetic Variants

Gene:AKAP3
Variant:p.S403R

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.S403R
c.1209T>A
Surrounding Variants
1 paper
NM_001278309.2
p.M412delFs
c.1235delA
1 paper
NM_001278309.2
p.E427Q
c.1279G>C
1 paper
NM_001278309.2
p.L378_R379del2
c.1132_1136del6
1 paper
NM_001278309.2
p.S364S
c.1092T>G
1 paper
NM_001278309.2
p.V358V
c.1074G>A
1 paper
NM_001278309.2
p.A357insFs
c.1069_1070insAC
1 paper
NM_001278309.2
p.K455I
c.1364A>T
4 papers
NM_001278309.2
p.L460L
c.1378T>C
2 papers
NM_001278309.2
p.V344I
c.1030G>A
5 papers
NM_001278309.2
p.T464S
c.1390A>T
6 papers
NM_001278309.2
p.T464S
c.1391C>G
1 paper
NM_001278309.2
p.T464insFs
c.1391_1392insG
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