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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:H2AC1

Variant:p.P27P

H2AC1

24 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 4–90UCSCCore histone H2A/H2B/H3/H4 domain

Histone_H2A_Caa 92–126UCSCC-terminus of histone H2A

Gene Aliases

HGNC Name

H2A clustered histone 1

HGNC Previous Symbol

HIST1H2AA

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr6:25726447 G>A

NM_170745.3

p.P27P

c.81C>T

Histone

Exome: 30.2% (AC=441567, hom=73334)Genome: 27.2% (AC=41405, hom=6836)43 overlapping SVs

Surrounding Variants

1 paper

chr6:25726446 C>T

NM_170745.3

p.V28I

c.82G>A

Histone

Exome: 0.0% (AC=8, hom=0)Genome: 0.0% (AC=1, hom=0)43 overlapping SVs

2 papers

chr6:25726463 G>A

NM_170745.3

p.A22V

c.65C>T

Histone

Exome: 0.0% (AC=7, hom=0)Genome: 0.0% (AC=1, hom=0)43 overlapping SVs

1 paper

chr6:25726422 G>A

NM_170745.3

p.R36C

c.106C>T

Histone

exact variant not in gnomAD43 overlapping SVs

2 papers

chr6:25726421 C>T

NM_170745.3

p.R36H

c.107G>A

Histone

Exome: 0.0% (AC=31, hom=0)Genome: 0.0% (AC=1, hom=0)43 overlapping SVs

1 paper

chr6:25726418 T>A

NM_170745.3

p.K37M

c.110A>T

Histone

exact variant not in gnomAD43 overlapping SVs

1 paper

chr6:25726481 T>A

NM_170745.3

p.K16M

c.47A>T

Histone

exact variant not in gnomAD43 overlapping SVs

1 paper

chr6:25726493 C>T

NM_170745.3

p.R12H

c.35G>A

Histone

Exome: 0.0% (AC=16, hom=0)Genome: 0.0% (AC=3, hom=0)43 overlapping SVs

1 paper

chr6:25726401 G>A

NM_170745.3

p.R43W

c.127C>T

Histone

Exome: 0.0% (AC=22, hom=0)Genome: 0.0% (AC=3, hom=0)43 overlapping SVs

1 paper

chr6:25726400 C>T

NM_170745.3

p.R43Q

c.128G>A

Histone

Exome: 0.0% (AC=5, hom=0)Genome: 0.0% (AC=3, hom=0)43 overlapping SVs

1 paper

chr6:25726497 C>CTT

NM_170745.3

p.A11insFs

c.31_32insAA

Histone

exact variant not in gnomAD43 overlapping SVs

1 paper

chr6:25726396 T>C

NM_170745.3

p.I44M

c.132A>G

Histone

Exome: 0.0% (AC=29, hom=0)Genome: 0.0% (AC=2, hom=0)43 overlapping SVs

1 paper

chr6:25726386 C>T

NM_170745.3

p.A48T

c.142G>A

Histone

Exome: 0.0% (AC=62, hom=0)Genome: 0.0% (AC=1, hom=0)43 overlapping SVs

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