Varaico: Literature-Extracted Genetic Variants

Gene:AK7
Variant:p.W342C

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.W342C
c.1026G>C
Surrounding Variants
1 paper
NM_152327.5
p.W342C
c.1026G>T
1 paper
NM_152327.5
p.T346A
c.1036A>G
1 paper
NM_152327.5
p.K335_E336del2
c.1003_1007del6
1 paper
NM_152327.5
p.F333S
c.998T>C
1 paper
NM_152327.5
p.A331A
c.993G>A
1 paper
NM_152327.5
p.K357insFs
c.1069_1070insAC
1 paper
NM_152327.5
p.S293N
c.878G>A
1 paper
NM_152327.5
p.K290_C291Splc
c.871-9C>T
1 paper
NM_152327.5
p.V378_G379del2
c.1132_1136del6
4 papers
NM_152327.5
p.K385*
c.1153A>T
1 paper
NM_152327.5
p.E386Q
c.1156G>C
4 papers
NM_152327.5
p.N389K
c.1167C>A
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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."