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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:H2BC26

Variant:p.V99A

H2BC26

16 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 18–101UCSCCore histone H2A/H2B/H3/H4 domain

Gene Aliases

HGNC Name

H2B clustered histone 26

HGNC Previous Symbols

HIST3H2BB; H2BU1

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr1:228458425 T>C

NM_175055.3

p.V99A

c.296T>C

Histone

exact variant not in gnomAD83 overlapping SVs

Surrounding Variants

1 paper

chr1:228458401 C>A

NM_175055.3

p.T91K

c.272C>A

Histone

exact variant not in gnomAD83 overlapping SVs

1 paper

chr1:228458499 A>T

NM_175055.3

p.S124C

c.370A>T

exact variant not in gnomAD83 overlapping SVs

1 paper

chr1:228458503 C>G

NM_175055.3

p.S125C

c.374C>G

exact variant not in gnomAD83 overlapping SVs

1 paper

chr1:228458307 A>G

NM_175055.3

p.M60V

c.178A>G

Histone

Exome: 0.0% (AC=8, hom=0)Genome: 0.0% (AC=1, hom=0)83 overlapping SVs

1 paper

chr1:228458304 G>T

NM_175055.3

p.A59S

c.175G>T

Histone

exact variant not in gnomAD83 overlapping SVs

1 paper

chr1:228458235 G>T

NM_175055.3

p.E36*

c.106G>T

Histone

exact variant not in gnomAD83 overlapping SVs

1 paper

chr1:228458218 G>A

NM_175055.3

p.R30H

c.89G>A

Histone

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

1 paper

chr1:228458196 C>T

NM_175055.3

p.Q23*

c.67C>T

Histone

Exome: 0.0% (AC=8, hom=0)Genome: 0.0% (AC=4, hom=0)83 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."