Varaico: Literature-Extracted Genetic Variants

Gene:AKAP3
Variant:p.R112delFs

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.R112delFs
c.335_336delCC
Surrounding Variants
1 paper
NM_001278309.2
p.R112fs
c.334_335fs
1 paper
NM_001278309.2
p.G118R
c.352G>C
1 paper
NM_001278309.2
p.G118R
c.352G>A
3 papers
NM_001278309.2
p.G118E
c.353G>A
1 paper
NM_001278309.2
p.S120S
c.360A>C
1 paper
NM_001278309.2
p.E123K
c.367G>A
1 paper
NM_001278309.2
p.M101insFs
c.302dupT
1 paper
NM_001278309.2
p.F126_Y127delFs
c.378_379delAG
1 paper
NM_001278309.2
p.R96R
c.288A>G
1 paper
NM_001278309.2
p.T90delFs
c.268delT
1 paper
NM_001278309.2
p.T89I
c.266C>T
1 paper
NM_001278309.2
p.N87T
c.260A>C
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