Varaico: Literature-Extracted Genetic Variants

Gene:AKAP3
Variant:p.G701insFs

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
5 papers
NM_001278309.2
p.G701insFs
c.2102dupG
Surrounding Variants
2 papers
NM_001278309.2
p.G701fs
c.2101_2102fs
3 papers
NM_001278309.2
p.D702fs
c.2104_2105fs
1 paper
NM_001278309.2
p.S700del1
c.2098_2100delAGA
7 papers
NM_001278309.2
p.S700fs
c.2098_2099fs
3 papers
NM_001278309.2
p.D702fs
c.2104_2105fs
3 papers
NM_001278309.2
p.S700delins
c.2098_2100delinsCTG
1 paper
NM_001278309.2
p.S700F
c.2099C>T
5 papers
NM_001278309.2
p.S700delFs
c.2098delA
2 papers
NM_001278309.2
p.S700P
c.2098T>C
2 papers
NM_001278309.2
p.S700fs
c.2098_2099fs
1 paper
NM_001278309.2
p.D698delFs
c.2092delC
1 paper
NM_001278309.2
p.G696R
c.2086G>C
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