Varaico: Literature-Extracted Genetic Variants

Gene:HOXB13
Variant:p.N189T

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.N189T
c.566A>C
Surrounding Variants
1 paper
NM_006361.6
p.N189N
c.567C>T
2 papers
NM_006361.6
p.P190L
c.569C>T
1 paper
NM_006361.6
p.Q188R
c.563A>G
1 paper
NM_006361.6
p.Q188E
c.562C>G
1 paper
NM_006361.6
p.P191fs
c.571_572fs
1 paper
NM_006361.6
p.F194L
c.580T>C
1 paper
NM_006361.6
p.F194I
c.580T>A
2 papers
NM_006361.6
p.C184F
c.551G>T
1 paper
NM_006361.6
p.F194L
c.582T>G
1 paper
NM_006361.6
p.F194L
c.582T>A
1 paper
NM_006361.6
p.W195*
c.584G>A
1 paper
NM_006361.6
p.W195*
c.585G>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."