Varaico: Literature-Extracted Genetic Variants

Gene:HOXB5

HOXB5

24 papers

RefSeq Summary

This gene is a member of the Antp homeobox family and encodes a nuclear protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox B genes located on chromosome 17. The encode...

Pfam Domains

Homeodomainaa 195–251UCSCHomeodomain

Gene Aliases

HGNC Name

homeobox B5

HGNC Previous Symbols

HOX2; HOX2A

Papers
RefSeq ID
Protein change
DNA change
1–12 of 23 variants
1 paper
NM_002147.4
p.G32R
c.94G>C
1 paper
NM_002147.4
p.Y49C
c.146A>G
1 paper
NM_002147.4
p.S63P
c.187T>C
1 paper
NM_002147.4
p.E98V
c.293A>T
1 paper
NM_002147.4
p.P117L
c.350C>T
1 paper
NM_002147.4
p.P142P
c.426T>G
1 paper
NM_002147.4
p.E144_A145insFs
c.432_433insC
1 paper
NM_002147.4
p.E170K
c.508G>A
1 paper
NM_002147.4
p.P178H
c.533C>A
1 paper
NM_002147.4
p.W179C
c.537G>T
1 paper
NM_002147.4
p.W179C
c.537G>C
1 paper
NM_002147.4
p.M180del1
c.538_540delCAT
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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."