Varaico: Literature-Extracted Genetic Variants

Gene:HOXB13
Variant:p.S162C

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.S162C
c.485C>G
Surrounding Variants
1 paper
NM_006361.6
p.L163M
c.487C>A
1 paper
NM_006361.6
p.R159*
c.475C>T
1 paper
NM_006361.6
p.D167N
c.499G>A
1 paper
NM_006361.6
p.Y169F
c.506A>T
1 paper
NM_006361.6
p.A154V
c.461C>T
1 paper
NM_006361.6
p.G153V
c.458G>T
8 papers
NM_006361.6
p.S171S
c.513T>C
1 paper
NM_006361.6
p.G153S
c.457G>A
1 paper
NM_006361.6
p.L152M
c.454C>A
1 paper
NM_006361.6
p.T151S
c.451A>T
1 paper
NM_006361.6
p.L174H
c.521T>A
1 paper
NM_006361.6
p.A175S
c.523G>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."