Varaico: Literature-Extracted Genetic Variants

Gene:HOXA13
Variant:p.P166S

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
1 paper
NM_000522.5
p.P166S
c.496C>T
Surrounding Variants
2 papers
NM_000522.5
p.P166T
c.496C>A
1 paper
NM_000522.5
p.A167S
c.499G>T
1 paper
NM_000522.5
p.G177R
c.529G>C
1 paper
NM_000522.5
p.P180L
c.539C>T
1 paper
NM_000522.5
p.A149V
c.446C>T
1 paper
NM_000522.5
p.P144_A145insFs
c.432_433insC
1 paper
NM_000522.5
p.G140insFs
c.418_419ins4
1 paper
NM_000522.5
p.G140_P141ins4
c.418_422ins12
1 paper
NM_000522.5
p.G137E
c.410G>A
3 papers
NM_000522.5
p.S136*
c.407C>A
4 papers
NM_000522.5
p.Q196*
c.586C>T
1 paper
NM_000522.5
p.P197L
c.590C>T
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