Varaico: Literature-Extracted Genetic Variants

Gene:BLMH
Variant:p.E96A

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
1 paper
NM_000386.4
p.E96A
c.287A>C
Surrounding Variants
1 paper
NM_000386.4
p.E94D
c.282A>T
1 paper
NM_000386.4
p.E94D
c.282A>C
1 paper
NM_000386.4
p.S98N
c.293G>A
1 paper
NM_000386.4
p.Y101F
c.302A>T
1 paper
NM_000386.4
p.M87I
c.261G>T
1 paper
NM_000386.4
p.M87I
c.261G>C
1 paper
NM_000386.4
p.M87I
c.261G>A
1 paper
NM_000386.4
p.W105L
c.314G>T
1 paper
NM_000386.4
p.F86delFs
c.257_258delGA
1 paper
NM_000386.4
p.D106G
c.317A>G
1 paper
NM_000386.4
p.V81A
c.242T>C
1 paper
NM_000386.4
p.I75T
c.224T>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."