Varaico: Literature-Extracted Genetic Variants

Gene:HOXA1
Variant:p.Y99fs

HOXA1

105 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

Homeodomainaa 230–286UCSCHomeodomain

Gene Aliases

HGNC Name

homeobox A1

HGNC Previous Symbols

HOX1F; HOX1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005522.5
p.Y99fs
c.295_296fs
Surrounding Variants
1 paper
NM_005522.5
p.G100S
c.298G>A
1 paper
NM_005522.5
p.Y99_S101delFs
c.296_302del7
1 paper
NM_005522.5
p.A112A
c.336G>A
1 paper
NM_005522.5
p.Q115R
c.344A>G
1 paper
NM_005522.5
p.E116K
c.346G>A
1 paper
NM_005522.5
p.A78A
c.234T>C
1 paper
NM_005522.5
p.G122W
c.364G>T
1 paper
NM_005522.5
p.P75H
c.224C>A
2 papers
NM_005522.5
p.H74del1
c.220_222delGTG
1 paper
NM_005522.5
p.H72_P75del0
c.215_223del9
4 papers
NM_005522.5
p.H72_R73del2
c.214_218del6
1 paper
NM_005522.5
p.Y123C
c.368A>G
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