Varaico: Literature-Extracted Genetic Variants

Gene:HOXB13
Variant:p.L144P

HOXB13

438 papers

RefSeq Summary

This gene encodes a transcription factor that belongs to the homeobox gene family. Genes of this family are highly conserved among vertebrates and essential for vertebrate embryonic development. This ...

Pfam Domains

HoxA13_Naa 12–123UCSCHox protein A13 N terminal
Homeodomainaa 217–273UCSCHomeodomain

Gene Aliases

HGNC Name

homeobox B13

HGNC Previous Name

homeo box B13

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
6 papers
NM_006361.6
p.L144P
c.431T>C
Surrounding Variants
1 paper
NM_006361.6
p.V146M
c.436G>A
1 paper
NM_006361.6
p.A141A
c.423C>G
1 paper
NM_006361.6
p.A141V
c.422C>T
1 paper
NM_006361.6
p.P139H
c.416C>A
1 paper
NM_006361.6
p.Q138H
c.414G>T
1 paper
NM_006361.6
p.Q138H
c.414G>C
1 paper
NM_006361.6
p.T151S
c.451A>T
1 paper
NM_006361.6
p.Y137S
c.410A>C
1 paper
NM_006361.6
p.Y137N
c.409T>A
1 paper
NM_006361.6
p.L152M
c.454C>A
1 paper
NM_006361.6
p.T136P
c.406A>C
1 paper
NM_006361.6
p.G153S
c.457G>A
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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."