Varaico: Literature-Extracted Genetic Variants

Gene:AK7
Variant:p.V521I

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
2 papers
NM_152327.5
p.V521I
c.1561G>A
Surrounding Variants
1 paper
NM_152327.5
p.A523T
c.1567G>A
2 papers
NM_152327.5
p.E533K
c.1597G>A
1 paper
NM_152327.5
p.P539A
c.1615C>G
1 paper
NM_152327.5
p.Q550H
c.1650A>C
1 paper
NM_152327.5
p.Q550H
c.1650A>T
1 paper
NM_152327.5
p.L554F
c.1660C>T
1 paper
NM_152327.5
p.P581L
c.1742C>T
1 paper
NM_152327.5
p.D585Splc
c.1753+1G>A
1 paper
NM_152327.5
p.V586I
c.1756G>A
1 paper
NM_152327.5
p.A592delFs
c.1774_1775delGC
1 paper
NM_152327.5
p.A597T
c.1789G>A
1 paper
NM_152327.5
p.K603_E604insG
c.1807_1811ins3
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