Varaico: Literature-Extracted Genetic Variants

Gene:AK4

AK4

33 papers

RefSeq Summary

This gene encodes a member of the adenylate kinase family of enzymes. The encoded protein is localized to the mitochondrial matrix. Adenylate kinases regulate the adenine and guanine nucleotide compos...

Pfam Domains

ADKaa 1–138UCSCAdenylate kinase
ADKaa 10–190UCSCAdenylate kinase
ADK_lidaa 126–161UCSCAdenylate kinase, active site lid

Gene Aliases

HGNC Name

adenylate kinase 4

HGNC Previous Symbol

AK3L1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 24 variants
2 papers
NM_013410.4
p.C22S
c.64T>A
2 papers
NM_013410.4
p.C22S
c.65G>C
2 papers
NM_013410.4
p.S61C
c.181A>T
2 papers
NM_013410.4
p.T197A
c.589A>G
1 paper
NM_013410.4
p.R7C
c.19C>T
1 paper
NM_013410.4
p.A26D
c.77C>A
1 paper
NM_013410.4
p.V50V
c.150T>A
1 paper
NM_013410.4
p.T70A
c.208A>G
1 paper
NM_013410.4
p.R71H
c.212G>A
1 paper
NM_013410.4
p.G82A
c.245G>C
1 paper
NM_013410.4
p.G89Splc
c.266-6522A>C
1 paper
NM_013410.4
p.G89Splc
c.266-12C>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."