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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MACROH2A2

MACROH2A2

26 papers

RefSeq Summary

Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histon...

Pfam Domains

Histoneaa 2–86UCSCCore histone H2A/H2B/H3/H4 domain

Histone_H2A_Caa 89–123UCSCC-terminus of histone H2A

Macroaa 216–330UCSCMacro domain

Gene Aliases

HGNC Name

macroH2A.2 histone

HGNC Previous Symbol

H2AFY2

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 26 variants

1 paper

chr10:70075668 C>T

NM_018649.3

p.R4W

c.10C>T

Histone

Exome: 0.0% (AC=6, hom=0)Genome: n/a30 overlapping SVs

1 paper

chr10:70075750 A>C

NM_018649.3

p.Y31S

c.92A>C

Histone

exact variant not in gnomAD30 overlapping SVs

1 paper

chr10:70075765 C>T

NM_018649.3

p.T36M

c.107C>T

Histone

Exome: 0.0% (AC=3, hom=0)Genome: 0.0% (AC=2, hom=0)30 overlapping SVs

1 paper

chr10:70075785 G>C

NM_018649.3

p.V43L

c.127G>C

Histone

Exome: 0.0% (AC=1, hom=0)Genome: 0.0% (AC=1, hom=0)30 overlapping SVs

1 paper

chr10:70075785 G>T

NM_018649.3

p.V43L

c.127G>T

Histone

Exome: 0.0% (AC=1, hom=0)Genome: n/a30 overlapping SVs

1 paper

chr10:70075797 G>A

NM_018649.3

p.V47I

c.139G>A

Histone

exact variant not in gnomAD30 overlapping SVs

1 paper

chr10:70075817 T>G

NM_018649.3

p.I53M

c.159T>G

Histone

Exome: 0.0% (AC=186, hom=0)Genome: 0.0% (AC=24, hom=0)30 overlapping SVs

1 paper

chr10:70090080 G>A

NM_018649.3

p.G65S

c.193G>A

Histone

Exome: 0.0% (AC=3, hom=0)Genome: n/a31 overlapping SVs

1 paper

chr10:70090152 G>T

NM_018649.3

p.E89*

c.265G>T

Histone_H2A_C

exact variant not in gnomAD31 overlapping SVs

1 paper

chr10:70090155 G>A

NM_018649.3

p.E90K

c.268G>A

Histone_H2A_C

exact variant not in gnomAD31 overlapping SVs

1 paper

chr10:70091790 G>A

NM_018649.3

p.V105I

c.313G>A

Histone_H2A_C

Exome: 0.0% (AC=10, hom=0)Genome: n/a32 overlapping SVs

1 paper

chr10:70091809 C>T

NM_018649.3

p.P111L

c.332C>T

Histone_H2A_C

exact variant not in gnomAD32 overlapping SVs

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."