Varaico: Literature-Extracted Genetic Variants

Gene:AK5
Variant:p.G474R

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.G474R
c.1420G>C
Surrounding Variants
2 papers
NM_174858.3
p.G474R
c.1420G>A
1 paper
NM_174858.3
p.L441F
c.1323G>C
1 paper
NM_174858.3
p.L441F
c.1323G>T
1 paper
NM_174858.3
p.A416S
c.1246G>T
1 paper
NM_174858.3
p.E409G
c.1226A>G
1 paper
NM_174858.3
p.E409K
c.1225G>A
1 paper
NM_174858.3
p.G383Splc
c.1148-5664A>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."