Varaico: Literature-Extracted Genetic Variants

Gene:AKAP3
Variant:p.V837M

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.V837M
c.2509G>A
Surrounding Variants
1 paper
NM_001278309.2
p.A836A
c.2508G>A
2 papers
NM_001278309.2
p.R831H
c.2492G>A
5 papers
NM_001278309.2
p.R831C
c.2491C>T
1 paper
NM_001278309.2
p.M850V
c.2548A>G
1 paper
NM_001278309.2
p.S823L
c.2468C>T
1 paper
NM_001278309.2
p.*854delFs
c.2561_2562delTT
1 paper
NM_001278309.2
p.A808G
c.2423C>G
1 paper
NM_001278309.2
p.S807L
c.2420C>T
1 paper
NM_001278309.2
p.K802_L803Splc
c.2407-74C>T
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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."