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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:H2BC1

H2BC1

30 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 19–102UCSCCore histone H2A/H2B/H3/H4 domain

Gene Aliases

HGNC Name

H2B clustered histone 1

HGNC Previous Symbol

HIST1H2BA

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 34 variants

2 papers

chr6:25726969 G>A

NM_170610.3

p.V21I

c.61G>A

Histone

Exome: 0.0% (AC=71, hom=0)Genome: 0.0% (AC=3, hom=0)43 overlapping SVs

1 paper

chr6:25726910 T>C

NM_170610.3

p.M1T

c.2T>C

exact variant not in gnomAD43 overlapping SVs

1 paper

chr6:25726921 T>C

NM_170610.3

p.S5P

c.13T>C

Exome: 0.0% (AC=3, hom=0)Genome: 0.0% (AC=1, hom=0)43 overlapping SVs

1 paper

chr6:25726925 C>T

NM_170610.3

p.S6F

c.17C>T

Exome: 0.0% (AC=39, hom=0)Genome: 0.0% (AC=8, hom=0)43 overlapping SVs

1 paper

chr6:25726929 A>T

NM_170610.3

p.K7N

c.21A>T

exact variant not in gnomAD43 overlapping SVs

1 paper

chr6:25726930 G>A

NM_170610.3

p.G8S

c.22G>A

Exome: 0.1% (AC=2058, hom=13)Genome: 0.2% (AC=237, hom=2)43 overlapping SVs

1 paper

chr6:25726966 G>A

NM_170610.3

p.V20I

c.58G>A

Histone

exact variant not in gnomAD43 overlapping SVs

1 paper

chr6:25726976 C>T

NM_170610.3

p.T23I

c.68C>T

Histone

Exome: 0.1% (AC=1025, hom=0)Genome: 0.0% (AC=69, hom=0)43 overlapping SVs

1 paper

chr6:25726982 A>G

NM_170610.3

p.K25R

c.74A>G

Histone

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

1 paper

chr6:25726984 AAG>N

NM_170610.3

p.K26fs

c.76_77fs

Histone

exact variant not in gnomAD43 overlapping SVs

1 paper

chr6:25726999 C>T

NM_170610.3

p.R31C

c.91C>T

Histone

Exome: 0.0% (AC=67, hom=0)Genome: 0.0% (AC=2, hom=0)43 overlapping SVs

1 paper

chr6:25727015 A>T

NM_170610.3

p.K36M

c.107A>T

Histone

exact variant not in gnomAD43 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."