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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HOXA9

HOXA9

108 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

Hox9_actaa 1–193UCSCHox9 activation region

Homeodomainaa 207–263UCSCHomeodomain

Gene Aliases

HGNC Name

homeobox A9

HGNC Previous Symbols

HOX1G; HOX1

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 82 variants

4 papers

chr7:27165154 C>G

NM_152739.4

p.A102P

c.304G>C

Hox9_act

Exome: 0.5% (AC=7091, hom=24)Genome: 0.4% (AC=623, hom=5)83 overlapping SVs

2 papers

chr7:27165045 G>A

NM_152739.4

p.S138L

c.413C>T

Hox9_act

Exome: 0.0% (AC=12, hom=0)Genome: 0.0% (AC=3, hom=0)83 overlapping SVs

1 paper

chr7:27165455 C>CT

NM_152739.4

p.M1_A2insFs

c.3_4insA

Hox9_act

exact variant not in gnomAD83 overlapping SVs

1 paper

chr7:27165453 G>A

NM_152739.4

p.A2V

c.5C>T

Hox9_act

Exome: 0.0% (AC=1, hom=0)Genome: 0.0% (AC=1, hom=0)83 overlapping SVs

1 paper

chr7:27165450 G>T

NM_152739.4

p.T3N

c.8C>A

Hox9_act

Exome: 0.0% (AC=0, hom=0)Genome: n/a83 overlapping SVs

1 paper

chr7:27165445 C>G

NM_152739.4

p.G5R

c.13G>C

Hox9_act

exact variant not in gnomAD83 overlapping SVs

1 paper

chr7:27165445 C>T

NM_152739.4

p.G5R

c.13G>A

Hox9_act

Exome: 0.0% (AC=2, hom=0)Genome: n/a83 overlapping SVs

1 paper

chr7:27165436 C>A

NM_152739.4

p.G8C

c.22G>T

Hox9_act

Exome: 0.0% (AC=0, hom=0)Genome: 0.0% (AC=0, hom=0)83 overlapping SVs

1 paper

chr7:27165426 T>C

NM_152739.4

p.Y11C

c.32A>G

Hox9_act

exact variant not in gnomAD83 overlapping SVs

1 paper

chr7:27165411 A>T

NM_152739.4

p.L16Q

c.47T>A

Hox9_act

exact variant not in gnomAD83 overlapping SVs

1 paper

chr7:27165403 C>A

NM_152739.4

p.A19S

c.55G>T

Hox9_act

Exome: 0.0% (AC=0, hom=0)Genome: n/a83 overlapping SVs

1 paper

chr7:27165401 G>A

NM_152739.4

p.A19A

c.57C>T

Hox9_act

Exome: 0.0% (AC=0, hom=0)Genome: n/a83 overlapping SVs

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