Varaico: Literature-Extracted Genetic Variants

Gene:AK7
Variant:p.G222E

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.G222E
c.665G>A
Surrounding Variants
1 paper
NM_152327.5
p.G223A
c.668G>C
1 paper
NM_152327.5
p.L225delFs
c.675delA
1 paper
NM_152327.5
p.T227insFs
c.680dupC
1 paper
NM_152327.5
p.V211I
c.631G>A
1 paper
NM_152327.5
p.K206delFs
c.616delA
1 paper
NM_152327.5
p.A239insFs
c.715dupG
1 paper
NM_152327.5
p.G244G
c.732C>T
1 paper
NM_152327.5
p.I253I
c.759C>T
1 paper
NM_152327.5
p.D257Y
c.769G>T
1 paper
NM_152327.5
p.A259T
c.775G>A
1 paper
NM_152327.5
p.H273R
c.818A>G
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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."