Varaico: Literature-Extracted Genetic Variants

Gene:HOXB13
Variant:p.S250L

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.S250L
c.749C>T
Surrounding Variants
4 papers
NM_006361.6
p.T253P
c.757A>C
2 papers
NM_006361.6
p.R247H
c.740G>A
6 papers
NM_006361.6
p.R247C
c.739C>T
1 paper
NM_006361.6
p.R247S
c.739C>A
2 papers
NM_006361.6
p.S254T
c.761G>C
2 papers
NM_006361.6
p.R246K
c.737G>A
1 paper
NM_006361.6
p.K245K
c.735G>A
1 paper
NM_006361.6
p.L255F
c.763C>T
1 paper
NM_006361.6
p.S254_L255insFs
c.760_763dup4
1 paper
NM_006361.6
p.L255L
c.765C>G
1 paper
NM_006361.6
p.L255fs
c.763_764fs
1 paper
NM_006361.6
p.K245E
c.733A>G
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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."