Varaico: Literature-Extracted Genetic Variants

Gene:HOXB13
Variant:p.A128V

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.A128V
c.383C>T
Surrounding Variants
9 papers
NM_006361.6
p.A128D
c.383C>A
4 papers
NM_006361.6
p.F127C
c.380T>G
1 paper
NM_006361.6
p.P131S
c.391C>T
1 paper
NM_006361.6
p.T125S
c.373A>T
15 papers
NM_006361.6
p.G132E
c.395G>A
1 paper
NM_006361.6
p.P124R
c.371C>G
1 paper
NM_006361.6
p.Y133H
c.397T>C
1 paper
NM_006361.6
p.R123H
c.368G>A
8 papers
NM_006361.6
p.S122S
c.366C>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.P134Q
c.401C>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."