Varaico: Literature-Extracted Genetic Variants

Gene:HOXB13
Variant:p.R220C

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
3 papers
NM_006361.6
p.R220C
c.658C>T
Surrounding Variants
1 paper
NM_006361.6
p.I221V
c.661A>G
2 papers
NM_006361.6
p.K218R
c.653A>G
2 papers
NM_006361.6
p.P222R
c.665C>G
3 papers
NM_006361.6
p.R217L
c.650G>T
12 papers
NM_006361.6
p.R217C
c.649C>T
9 papers
NM_006361.6
p.G216C
c.646G>T
1 paper
NM_006361.6
p.R215C
c.643C>T
2 papers
NM_006361.6
p.R214C
c.640C>T
1 paper
NM_006361.6
p.A212insFs
c.636dupC
2 papers
NM_006361.6
p.Q227E
c.679C>G
2 papers
NM_006361.6
p.Q227R
c.680A>G
3 papers
NM_006361.6
p.A212T
c.634G>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."