Varaico: Literature-Extracted Genetic Variants

Gene:HOXB13
Variant:p.S93A

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
2 papers
NM_006361.6
p.S93A
c.277T>G
Surrounding Variants
1 paper
NM_006361.6
p.R94Q
c.281G>A
1 paper
NM_006361.6
p.R94delFs
c.281_282delCC
1 paper
NM_006361.6
p.L97M
c.289C>A
2 papers
NM_006361.6
p.L97Q
c.290T>A
3 papers
NM_006361.6
p.Y88D
c.262T>G
1 paper
NM_006361.6
p.Y87insFs
c.260dupA
1 paper
NM_006361.6
p.Y87delFs
c.260delT
1 paper
NM_006361.6
p.G86insFs
c.258dupG
2 papers
NM_006361.6
p.Y87D
c.259T>G
1 paper
NM_006361.6
p.G85_G86delFs
c.255_258del4
1 paper
NM_006361.6
p.P99T
c.295C>A
1 paper
NM_006361.6
p.G86fs
c.256_257fs
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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."