Varaico: Literature-Extracted Genetic Variants

Gene:AK5
Variant:p.V60L

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
1 paper
NM_174858.3
p.V60L
c.178G>C
Surrounding Variants
1 paper
NM_174858.3
p.V60L
c.178G>T
1 paper
NM_174858.3
p.G72R
c.214G>A
1 paper
NM_174858.3
p.G72R
c.214G>C
1 paper
NM_174858.3
p.K46R
c.137A>G
1 paper
NM_174858.3
p.Q74insFs
c.221_222insA
1 paper
NM_174858.3
p.Q74*
c.220C>T
1 paper
NM_174858.3
p.R76Q
c.227G>A
1 paper
NM_174858.3
p.R76_L80delFs
c.228_238del11
2 papers
NM_174858.3
p.P31P
c.93C>T
1 paper
NM_174858.3
p.C28S
c.83G>C
1 paper
NM_174858.3
p.C28S
c.82T>A
1 paper
NM_174858.3
p.L22F
c.64C>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."