Varaico: Literature-Extracted Genetic Variants

Gene:HOXA13
Variant:p.A49T

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
2 papers
NM_000522.5
p.A49T
c.145G>A
Surrounding Variants
1 paper
NM_000522.5
p.A47insFs
c.140_141ins4
1 paper
NM_000522.5
p.G52R
c.154G>C
1 paper
NM_000522.5
p.G52R
c.154G>A
1 paper
NM_000522.5
p.G55S
c.163G>A
1 paper
NM_000522.5
p.A42T
c.124G>A
1 paper
NM_000522.5
p.A53_G55del3
c.157_164del9
1 paper
NM_000522.5
p.F58V
c.172T>G
2 papers
NM_000522.5
p.P59A
c.175C>G
1 paper
NM_000522.5
p.P59insFs
c.176_177insG
1 paper
NM_000522.5
p.H60R
c.179A>G
1 paper
NM_000522.5
p.G55_A65delFs
c.163_193del31
2 papers
NM_000522.5
p.A66S
c.196G>T
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