Varaico: Literature-Extracted Genetic Variants

Gene:AK7
Variant:p.L673R

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
4 papers
NM_152327.5
p.L673R
c.2018T>G
Surrounding Variants
19 papers
NM_152327.5
p.L673P
c.2018T>C
1 paper
NM_152327.5
p.L673M
c.2017C>A
1 paper
NM_152327.5
p.Y687insFs
c.2061dupT
1 paper
NM_152327.5
p.L692F
c.2074C>T
1 paper
NM_001350888.2
p.L673P
c.2018T>C
1 paper
NM_152327.5
p.E698delFs
c.2092delG
1 paper
NM_152327.5
p.R703*
c.2107C>T
1 paper
NM_152327.5
p.L711_A712Splc
c.2133+91A>G
1 paper
NM_152327.5
p.E644Q
c.1930G>C
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
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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."