Varaico: Literature-Extracted Genetic Variants

Gene:LACTB
Variant:p.Y375fs

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
Selected Variant
1 paper
NM_032857.5
p.Y375fs
c.1123_1124fs
Surrounding Variants
1 paper
NM_032857.5
p.Y375delFs
c.1124delA
1 paper
NM_032857.5
p.V376F
c.1126G>T
1 paper
NM_032857.5
p.K380N
c.1140G>C
1 paper
NM_032857.5
p.K380N
c.1140G>T
4 papers
NM_032857.5
p.R382C
c.1144C>T
3 papers
NM_032857.5
p.R382L
c.1145G>T
1 paper
NM_032857.5
p.V389M
c.1165G>A
1 paper
NM_032857.5
p.V404fs
c.1210_1211fs
4 papers
NM_032857.5
p.E457K
c.1369G>A
1 paper
NM_032857.5
p.A463A
c.1389G>A
1 paper
NM_032857.5
p.E468G
c.1403A>G
1 paper
NM_032857.5
p.R469fs
c.1405_1406fs
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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."