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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:H1-3

H1-3

112 papers

RefSeq Summary

Histones are basic nuclear proteins responsible for nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer,...

Pfam Domains

Linker_histoneaa 38–109UCSClinker histone H1 and H5 family

Gene Aliases

HGNC Name

H1.3 linker histone, cluster member

HGNC Previous Symbols

H1F3; HIST1H1D

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 159 variants

4 papers

chr6:26234717 C>T

NM_005320.3

p.D73N

c.217G>A

Linker_histone

Exome: 0.0% (AC=2, hom=0)Genome: n/a50 overlapping SVs

4 papers

chr6:26234674 C>G

NM_005320.3

p.S87T

c.260G>C

Linker_histone

Exome: 0.0% (AC=5, hom=0)Genome: 0.0% (AC=1, hom=0)50 overlapping SVs

4 papers

chr6:26234378 C>T

NM_005320.3

p.A186T

c.556G>A

Exome: 0.0% (AC=8, hom=0)Genome: 0.0% (AC=2, hom=0)50 overlapping SVs

3 papers

chr6:26234891 C>T

NM_005320.3

p.A15T

c.43G>A

Exome: 0.0% (AC=486, hom=5)Genome: 0.0% (AC=20, hom=0)50 overlapping SVs

3 papers

chr6:26234695 C>T

NM_005320.3

p.R80H

c.239G>A

Linker_histone

Exome: 0.0% (AC=7, hom=0)Genome: n/a50 overlapping SVs

3 papers

chr6:26234569 T>C

NM_005320.3

p.K122R

c.365A>G

Exome: 0.1% (AC=1499, hom=9)Genome: 0.1% (AC=185, hom=1)50 overlapping SVs

3 papers

chr6:26234498 C>G

NM_005320.3

p.A146P

c.436G>C

Exome: 0.3% (AC=4513, hom=16)Genome: 0.2% (AC=295, hom=2)50 overlapping SVs

2 papers

chr6:26234857 T>A

NM_005320.3

p.K26M

c.77A>T

exact variant not in gnomAD50 overlapping SVs

2 papers

chr6:26234827 G>A

NM_005320.3

p.A36V

c.107C>T

Exome: 0.0% (AC=20, hom=0)Genome: 0.0% (AC=3, hom=0)50 overlapping SVs

2 papers

chr6:26234813 C>T

NM_005320.3

p.V41I

c.121G>A

Linker_histone

Exome: 0.5% (AC=7692, hom=34)Genome: 0.5% (AC=718, hom=2)50 overlapping SVs

2 papers

chr6:26234807 C>T

NM_005320.3

p.E43K

c.127G>A

Linker_histone

Exome: 0.0% (AC=165, hom=2)Genome: 0.0% (AC=13, hom=0)50 overlapping SVs

2 papers

chr6:26234779 G>A

NM_005320.3

p.S52F

c.155C>T

Linker_histone

Exome: 0.0% (AC=6, hom=0)Genome: 0.0% (AC=10, hom=0)50 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."