Varaico: Literature-Extracted Genetic Variants

Gene:HOXB13
Variant:p.E119K

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
1 paper
NM_006361.6
p.E119K
c.355G>A
Surrounding Variants
1 paper
NM_006361.6
p.E119G
c.356A>G
1 paper
NM_006361.6
p.E118delFs
c.352delC
1 paper
NM_006361.6
p.G117E
c.350G>A
1 paper
NM_006361.6
p.G117R
c.349G>C
1 paper
NM_006361.6
p.G117R
c.349G>A
1 paper
NM_006361.6
p.P121A
c.361C>G
2 papers
NM_006361.6
p.S122R
c.364A>C
8 papers
NM_006361.6
p.S122S
c.366C>T
1 paper
NM_006361.6
p.T115M
c.344C>T
2 papers
NM_006361.6
p.S122R
c.366C>G
2 papers
NM_006361.6
p.S122R
c.366C>A
1 paper
NM_006361.6
p.R123H
c.368G>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."