Varaico: Literature-Extracted Genetic Variants

Gene:HOXB13
Variant:p.A282T

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.A282T
c.844G>A
Surrounding Variants
1 paper
NM_006361.6
p.A282fs
c.844_845fs
1 paper
NM_006361.6
p.A282delFs
c.844_845delGC
1 paper
NM_006361.6
p.S281T
c.842G>C
1 paper
NM_006361.6
p.S281_A282del2
c.841_845del6
1 paper
NM_006361.6
p.P284S
c.850C>T
20 papers
NM_006361.6
p.*285K
c.853T>A
2 papers
NM_006361.6
p.*285fs
c.853_854fs
11 papers
NM_006361.6
p.*285delFs
c.853delA
1 paper
NM_006361.6
p.*285fs
c.853_854fs
7 papers
NM_006361.6
p.V278L
c.832G>T
7 papers
NM_006361.6
p.V278L
c.832G>C
1 paper
NM_006361.6
p.A276T
c.826G>A
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