Varaico: Literature-Extracted Genetic Variants

Gene:AK3
Variant:p.G91D

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
2 papers
NM_016282.4
p.G91D
c.272G>A
Surrounding Variants
1 paper
NM_016282.4
p.G91S
c.271G>A
1 paper
NM_016282.4
p.P93L
c.278C>T
1 paper
NM_016282.4
p.D109Y
c.325G>T
1 paper
NM_016282.4
p.W129C
c.387G>T
1 paper
NM_016282.4
p.W129C
c.387G>C
1 paper
NM_016282.4
p.D163N
c.487G>A
1 paper
NM_016282.4
p.I170M
c.510C>G
1 paper
NM_016282.4
p.R172G
c.514A>G
1 paper
NM_016282.4
p.Q188Splc
c.563+3G>A
1 paper
NM_016282.4
p.G91Splc
c.271+21A>C
1 paper
NM_016282.4
p.H77R
c.230A>G
1 paper
NM_016282.4
p.T201A
c.601A>G
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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."