Varaico: Literature-Extracted Genetic Variants

Gene:AK5

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
1–12 of 77 variants
11 papers
NM_174858.3
p.I561_F562ins1
c.1683_1684insATT
6 papers
NM_174858.3
p.T534ins1
c.1601_1602insTAT
2 papers
NM_174858.3
p.P31P
c.93C>T
2 papers
NM_174858.3
p.G474R
c.1420G>A
2 papers
NM_174858.3
p.G474R
c.1420G>C
2 papers
NM_174858.3
p.T534_K535ins1
c.1602_1603insTAT
2 papers
NM_174858.3
p.K535_T536ins1
c.1605_1606insATC
2 papers
NM_174858.3
p.I561_F562ins1
c.1683_1684insATC
1 paper
NM_174858.3
p.A6T
c.16G>A
1 paper
NM_174858.3
p.L22F
c.64C>T
1 paper
NM_174858.3
p.C28S
c.82T>A
1 paper
NM_174858.3
p.C28S
c.83G>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."