Varaico: Literature-Extracted Genetic Variants

Gene:AK7
Variant:p.R102Q

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
3 papers
NM_152327.5
p.R102Q
c.305G>A
Surrounding Variants
1 paper
NM_152327.5
p.R102*
c.304C>T
1 paper
NM_152327.5
p.L110L
c.328C>T
1 paper
NM_152327.5
p.E111*
c.331G>T
1 paper
NM_152327.5
p.C112delFs
c.335_336delGT
1 paper
NM_152327.5
p.V114I
c.340G>A
1 paper
NM_152327.5
p.S122R
c.366C>A
1 paper
NM_152327.5
p.M126_E127delFs
c.378_379delGG
1 paper
NM_152327.5
p.E127A
c.380A>C
1 paper
NM_152327.5
p.E128fs
c.382_383fs
1 paper
NM_152327.5
p.A132T
c.394G>A
1 paper
NM_152327.5
p.F143_K145del3
c.427_434del9
1 paper
NM_152327.5
p.M156R
c.467T>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."