Varaico: Literature-Extracted Genetic Variants

Gene:HOXB5
Variant:p.K254K

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
Selected Variant
1 paper
NM_002147.4
p.K254K
c.762A>G
Surrounding Variants
1 paper
NM_002147.4
p.K254N
c.762A>T
1 paper
NM_002147.4
p.K254N
c.762A>C
1 paper
NM_002147.4
p.M258I
c.774G>T
1 paper
NM_002147.4
p.M258I
c.774G>C
1 paper
NM_002147.4
p.M258I
c.774G>A
1 paper
NM_002147.4
p.A261V
c.782C>T
1 paper
NM_002147.4
p.R224L
c.671G>T
1 paper
NM_002147.4
p.N216N
c.648C>T
1 paper
NM_002147.4
p.L207L
c.621G>C
1 paper
NM_002147.4
p.A200T
c.598G>A
1 paper
NM_002147.4
p.M180del1
c.538_540delCAT
1 paper
NM_002147.4
p.W179C
c.537G>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."