Varaico: Literature-Extracted Genetic Variants

Gene:HOXA13
Variant:p.V5A

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.V5A
c.14T>C
Surrounding Variants
1 paper
NM_000522.5
p.V5L
c.13G>C
1 paper
NM_000522.5
p.M1_T2insFs
c.3_4insA
1 paper
NM_000522.5
p.R10L
c.29G>T
1 paper
NM_000522.5
p.T15N
c.44C>A
1 paper
NM_000522.5
p.V16I
c.46G>A
1 paper
NM_000522.5
p.F18_L19del1
c.53_55delGAA
1 paper
NM_000522.5
p.G25R
c.73G>C
1 paper
NM_000522.5
p.D29insFs
c.86_87ins11
1 paper
NM_000522.5
p.E30fs
c.88_89fs
1 paper
NM_000522.5
p.A42T
c.124G>A
1 paper
NM_000522.5
p.A47insFs
c.140_141ins4
2 papers
NM_000522.5
p.A49T
c.145G>A
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