Varaico: Literature-Extracted Genetic Variants

Gene:AK7
Variant:p.E644Q

AK7

91 papers

RefSeq Summary

This gene encodes a member of the adenylate kinase family of enzymes. The encoded enzyme is a phosphotransferase that catalyzes the reversible phosphorylation of adenine nucleotides. This enzyme plays...

Pfam Domains

Dpy-30aa 679–720UCSCDpy-30 motif

Gene Aliases

HGNC Name

adenylate kinase 7

HGNC Alias Symbols

FLJ32864; FAP75; CFAP75

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_152327.5
p.E644Q
c.1930G>C
Surrounding Variants
1 paper
NM_152327.5
p.E637K
c.1909G>A
1 paper
NM_152327.5
p.E636K
c.1906G>A
1 paper
NM_152327.5
p.A631V
c.1892C>T
2 papers
NM_152327.5
p.R629Q
c.1886G>A
1 paper
NM_152327.5
p.E621insFs
c.1862dupA
5 papers
NM_152327.5
p.E616K
c.1846G>A
1 paper
NM_152327.5
p.R609*
c.1825C>T
1 paper
NM_152327.5
p.K603_E604insG
c.1807_1811ins3
1 paper
NM_152327.5
p.A597T
c.1789G>A
1 paper
NM_152327.5
p.A592delFs
c.1774_1775delGC
1 paper
NM_152327.5
p.V586I
c.1756G>A
1 paper
NM_152327.5
p.L673M
c.2017C>A
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