Varaico: Literature-Extracted Genetic Variants

Gene:AKAP3
Variant:p.V344I

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
2 papers
NM_001278309.2
p.V344I
c.1030G>A
Surrounding Variants
1 paper
NM_001278309.2
p.S343G
c.1027A>G
1 paper
NM_001278309.2
p.H342H
c.1026C>T
1 paper
NM_001278309.2
p.L341I
c.1021C>A
1 paper
NM_001278309.2
p.D335_S336del2
c.1003_1007del6
1 paper
NM_001278309.2
p.L333P
c.998T>C
1 paper
NM_001278309.2
p.A357insFs
c.1069_1070insAC
1 paper
NM_001278309.2
p.V358V
c.1074G>A
1 paper
NM_001278309.2
p.E328*
c.982G>T
1 paper
NM_001278309.2
p.H325Y
c.973C>T
1 paper
NM_001278309.2
p.S364S
c.1092T>G
1 paper
NM_001278309.2
p.L318P
c.953T>C
1 paper
NM_001278309.2
p.D310E
c.930C>G
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