Varaico: Literature-Extracted Genetic Variants

Gene:LACTB
Variant:p.R480L

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.R480L
c.1439G>T
Surrounding Variants
1 paper
NM_032857.5
p.R480Q
c.1439G>A
1 paper
NM_032857.5
p.R480W
c.1438C>T
1 paper
NM_032857.5
p.Y482H
c.1444T>C
1 paper
NM_032857.5
p.S475L
c.1424C>T
1 paper
NM_032857.5
p.T472K
c.1415C>A
1 paper
NM_032857.5
p.T472M
c.1415C>T
6 papers
NM_032857.5
p.R469K
c.1406G>A
1 paper
NM_032857.5
p.R469fs
c.1405_1406fs
1 paper
NM_032857.5
p.E468G
c.1403A>G
1 paper
NM_032857.5
p.S493R
c.1477A>C
1 paper
NM_032857.5
p.S493R
c.1479T>A
1 paper
NM_032857.5
p.S493R
c.1479T>G
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