Varaico: Literature-Extracted Genetic Variants

Gene:LACTB

LACTB

54 papers

RefSeq Summary

This gene encodes a mitochondrially-localized protein that has sequence similarity to prokaryotic beta-lactamases. Many of the residues responsible for beta-lactamase activity are not conserved in thi...

Pfam Domains

Beta-lactamaseaa 111–539UCSCBeta-lactamase

Gene Aliases

HGNC Name

lactamase beta

HGNC Previous Symbol

MRPL56

Papers
RefSeq ID
Protein change
DNA change
1–12 of 60 variants
6 papers
NM_032857.5
p.R469K
c.1406G>A
4 papers
NM_032857.5
p.M5L
c.13A>C
4 papers
NM_032857.5
p.M5L
c.13A>T
4 papers
NM_032857.5
p.E121K
c.361G>A
4 papers
NM_032857.5
p.R371K
c.1112G>A
4 papers
NM_032857.5
p.R382C
c.1144C>T
4 papers
NM_032857.5
p.E457K
c.1369G>A
3 papers
NM_032857.5
p.V148F
c.442G>T
3 papers
NM_032857.5
p.E149Q
c.445G>C
3 papers
NM_032857.5
p.R151S
c.451C>A
3 papers
NM_032857.5
p.E363K
c.1087G>A
3 papers
NM_032857.5
p.R382L
c.1145G>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."