Varaico: Literature-Extracted Genetic Variants

Gene:AK3
Variant:p.M1V

AK3

39 papers

RefSeq Summary

The protein encoded by this gene is a GTP:ATP phosphotransferase that is found in the mitochondrial matrix. Several transcript variants encoding a few different isoforms have been found for this gene....

Pfam Domains

ADKaa 12–192UCSCAdenylate kinase
ADK_lidaa 128–163UCSCAdenylate kinase, active site lid

Gene Aliases

HGNC Name

adenylate kinase 3

HGNC Previous Symbol

AK3L1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_016282.4
p.M1V
c.1A>G
Surrounding Variants
1 paper
NM_016282.4
p.A10V
c.29C>T
1 paper
NM_016282.4
p.P16L
c.47C>T
1 paper
NM_016282.4
p.S18*
c.53C>A
1 paper
NM_016282.4
p.G19S
c.55G>A
1 paper
NM_016282.4
p.K20R
c.59A>G
1 paper
NM_016282.4
p.R26C
c.76C>T
1 paper
NM_016282.4
p.D40N
c.118G>A
1 paper
NM_016282.4
p.M46delFs
c.138delC
1 paper
NM_016282.4
p.T50I
c.149C>T
1 paper
NM_016282.4
p.E51Splc
c.151+1786C>T
1 paper
NM_016282.4
p.E51Splc
c.151+5858C>T
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."