Varaico: Literature-Extracted Genetic Variants

Gene:HOXA13
Variant:p.Q196*

HOXA13

113 papers

RefSeq Summary

In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spa...

Pfam Domains

HoxA13_Naa 140–224UCSCHox protein A13 N terminal
Homeodomainaa 323–379UCSCHomeodomain

Gene Aliases

HGNC Name

homeobox A13

HGNC Previous Symbols

HOX1J; HOX1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_000522.5
p.Q196*
c.586C>T
Surrounding Variants
1 paper
NM_000522.5
p.P197L
c.590C>T
1 paper
NM_000522.5
p.F206L
c.616T>C
1 paper
NM_000522.5
p.F206L
c.618C>G
1 paper
NM_000522.5
p.F206L
c.618C>A
1 paper
NM_000522.5
p.A207T
c.619G>A
1 paper
NM_000522.5
p.A207A
c.621G>C
1 paper
NM_000522.5
p.D208N
c.622G>A
1 paper
NM_000522.5
p.D208D
c.624C>T
1 paper
NM_000522.5
p.P180L
c.539C>T
1 paper
NM_000522.5
p.D212H
c.634G>C
1 paper
NM_000522.5
p.G177R
c.529G>C
2 papers
NM_000522.5
p.E220*
c.658G>T
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