Varaico: Literature-Extracted Genetic Variants

Gene:BLMH
Variant:p.I443V

BLMH

95 papers

RefSeq Summary

Bleomycin hydrolase (BMH) is a cytoplasmic cysteine peptidase that is highly conserved through evolution; however, the only known activity of the enzyme is metabolic inactivation of the glycopeptide b...

Pfam Domains

Peptidase_C1_2aa 5–451UCSCPeptidase C1-like family

Gene Aliases

HGNC Name

bleomycin hydrolase

HGNC Alias Symbol

BH

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
15 papers
NM_000386.4
p.I443V
c.1327A>G
Surrounding Variants
1 paper
NM_000386.4
p.E455Q
c.1363G>C
1 paper
NM_000386.4
p.E455K
c.1363G>A
1 paper
NM_000386.4
p.E455A
c.1364A>C
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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."