Varaico: Literature-Extracted Genetic Variants

Gene:AK7
Variant:p.L10insFs

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.L10insFs
c.29dupT
Surrounding Variants
1 paper
NM_152327.5
p.M1T
c.2T>C
1 paper
NM_152327.5
p.M1insFs
c.3dupG
1 paper
NM_152327.5
p.M1insFs
c.2dupT
1 paper
NM_152327.5
p.R19G
c.55A>G
1 paper
NM_152327.5
p.M1delFs
c.2delT
1 paper
NM_152327.5
p.I22I
c.66A>T
1 paper
NM_152327.5
p.K35_F36Splc
c.105+2991A>G
1 paper
NM_152327.5
p.V41delFs
c.123delA
1 paper
NM_152327.5
p.V42L
c.124G>C
1 paper
NM_152327.5
p.S45L
c.134C>T
1 paper
NM_152327.5
p.E48_I49del1
c.143_145delAAA
1 paper
NM_152327.5
p.E53_D57del0
c.159_170del12
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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."