Varaico: Literature-Extracted Genetic Variants

Gene:HOXB13
Variant:p.L53M

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.L53M
c.157C>A
Surrounding Variants
1 paper
NM_006361.6
p.P54S
c.160C>T
1 paper
NM_006361.6
p.A57S
c.169G>T
1 paper
NM_006361.6
p.A49P
c.145G>C
4 papers
NM_006361.6
p.N47S
c.140A>G
1 paper
NM_006361.6
p.P59T
c.175C>A
1 paper
NM_006361.6
p.P59L
c.176C>T
1 paper
NM_006361.6
p.P59insFs
c.176_177insG
1 paper
NM_006361.6
p.P60P
c.180A>G
1 paper
NM_006361.6
p.P60fs
c.178_179fs
1 paper
NM_006361.6
p.P60delFs
c.179delG
1 paper
NM_006361.6
p.P44P
c.132T>G
2 papers
NM_006361.6
p.K61M
c.182A>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."