Varaico: Literature-Extracted Genetic Variants

Gene:PBX1
Variant:p.L182P

PBX1

246 papers

RefSeq Summary

This gene encodes a nuclear protein that belongs to the PBX homeobox family of transcriptional factors. Studies in mice suggest that this gene may be involved in the regulation of osteogenesis and req...

Pfam Domains

PBCaa 42–232UCSCPBC domain
Homeodomainaa 234–293UCSCHomeodomain

Gene Aliases

HGNC Name

PBX homeobox 1

HGNC Previous Names

pre-B-cell leukemia transcription factor 1; pre-B-cell leukemia homeobox 1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002585.4
p.L182P
c.545T>C
Surrounding Variants
1 paper
NM_002585.4
p.L183L
c.549G>A
13 papers
NM_002585.4
p.R184*
c.550C>T
10 papers
NM_002585.4
p.R184P
c.551G>C
2 papers
NM_002585.4
p.H178Y
c.532C>T
1 paper
NM_002585.4
p.T177I
c.530C>T
1 paper
NM_002585.4
p.T176delFs
c.528delC
3 papers
NM_002585.4
p.T189delFs
c.567delC
1 paper
NM_001353130.1
p.R107W
c.319A>T
2 papers
NM_002585.4
p.R190fs
c.568_569fs
1 paper
NM_001353130.1
p.R107K
c.320G>A
1 paper
NM_002585.4
p.R190S
c.570G>C
1 paper
NM_002585.4
p.R190S
c.570G>T
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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."