Varaico: Literature-Extracted Genetic Variants

Gene:BMF

BMF

34 papers

RefSeq Summary

The protein encoded by this gene belongs to the BCL2 protein family. BCL2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of ...

Pfam Domains

BMFaa 1–184UCSCBcl-2-modifying factor, apoptosis

Gene Aliases

HGNC Name

Bcl2 modifying factor

HGNC Alias Symbol

FLJ00065

Papers
RefSeq ID
Protein change
DNA change
1–12 of 14 variants
1 paper
NM_001003940.2
p.M1delFs
c.2delA
1 paper
NM_001003940.2
p.V7L
c.19G>T
1 paper
NM_001003940.2
p.V7L
c.19G>C
1 paper
NM_001003940.2
p.T24T
c.72C>G
1 paper
NM_001003940.2
p.Q37_S38delFs
c.110_113del4
1 paper
NM_001003940.2
p.P43_L47Fs
c.129_140delinsGTFs
1 paper
NM_001003940.2
p.R94L
c.281G>T
1 paper
NM_001003940.2
p.A100delFs
c.298_299delGC
1 paper
NM_001003940.2
p.F110_V113del4
c.328_338del12
1 paper
NM_001003940.2
p.P120S
c.358C>T
1 paper
NM_001003940.2
p.Q124*
c.370C>T
1 paper
NM_001003940.2
p.Q126R
c.377A>G
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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."