Varaico: Literature-Extracted Genetic Variants

Gene:HOXB13
Variant:p.P70L

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.P70L
c.209C>T
Surrounding Variants
1 paper
NM_006361.6
p.P70T
c.208C>A
1 paper
NM_006361.6
p.V69A
c.206T>C
2 papers
NM_006361.6
p.Q71L
c.212A>T
1 paper
NM_006361.6
p.V69L
c.205G>T
1 paper
NM_006361.6
p.V69L
c.205G>C
1 paper
NM_006361.6
p.G72W
c.214G>T
1 paper
NM_006361.6
p.Q71_G72delins
c.213_214delinsAT
1 paper
NM_006361.6
p.G72V
c.215G>T
1 paper
NM_006361.6
p.G72fs
c.214_215fs
8 papers
NM_006361.6
p.G72G
c.216G>C
1 paper
NM_006361.6
p.T73M
c.218C>T
1 paper
NM_006361.6
p.P67H
c.200C>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."