Varaico: Literature-Extracted Genetic Variants

Gene:AK5
Variant:p.I561_F562ins1

AK5

74 papers

RefSeq Summary

This gene encodes a member of the adenylate kinase family, which is involved in regulating the adenine nucleotide composition within a cell by catalyzing the reversible transfer of phosphate groups am...

Pfam Domains

ADKaa 137–294UCSCAdenylate kinase
ADKaa 137–294UCSCAdenylate kinase
ADKaa 381–537UCSCAdenylate kinase
ADKaa 381–537UCSCAdenylate kinase

Gene Aliases

HGNC Name

adenylate kinase 5

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_174858.3
p.I561_F562ins1
c.1683_1684insATC
Surrounding Variants
1 paper
NM_174858.3
p.F562I
c.1684T>A
1 paper
NM_174858.3
p.I561_F562insI
c.1681_1685ins3
11 papers
NM_174858.3
p.I561_F562ins1
c.1683_1684insATT
1 paper
NM_174858.3
p.S560_I561ins1
c.1680_1681insTAT
1 paper
NM_174858.3
p.P547P
c.1641A>G
1 paper
NM_174858.3
p.G545A
c.1634G>C
1 paper
NM_174858.3
p.K540_I541Splc
c.1621-3T>C
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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."