Varaico: Literature-Extracted Genetic Variants

Gene:AKAP3
Variant:p.F81L

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.F81L
c.243C>A
Surrounding Variants
2 papers
NM_001278309.2
p.F81L
c.243C>G
2 papers
NM_001278309.2
p.F81L
c.241T>C
1 paper
NM_001278309.2
p.N87T
c.260A>C
1 paper
NM_001278309.2
p.T89I
c.266C>T
1 paper
NM_001278309.2
p.T90delFs
c.268delT
1 paper
NM_001278309.2
p.R96R
c.288A>G
1 paper
NM_001278309.2
p.M101insFs
c.302dupT
1 paper
NM_001278309.2
p.R60L
c.179G>T
1 paper
NM_001278309.2
p.R60Q
c.179G>A
1 paper
NM_001278309.2
p.R112fs
c.334_335fs
1 paper
NM_001278309.2
p.R112delFs
c.335_336delCC
1 paper
NM_001278309.2
p.D48delFs
c.144delG
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."