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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:H3-7

H3-7

15 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

Histoneaa 44–131UCSCCore histone H2A/H2B/H3/H4 domain

Gene Aliases

HGNC Name

H3.7 histone (putative)

HGNC Previous Symbols

HIST2H3PS2; H3-2

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

2 papers

chr1:143905804 A>G

NM_001372105.2

p.Y55H

c.163T>C

Histone

Exome: 0.0% (AC=1, hom=0)Genome: n/a246 overlapping SVs

1 paper

chr1:143905852 G>T

NM_001372105.2

p.P39T

c.115C>A

Exome: 0.0% (AC=7, hom=1)Genome: 0.0% (AC=0, hom=0)246 overlapping SVs

1 paper

chr1:143905834 CG>C

NM_001372105.2

p.P44delFs

c.132delG

Histone

Exome: 0.0% (AC=3, hom=0)Genome: n/a246 overlapping SVs

1 paper

chr1:143905834 GCC>N

NM_001372105.2

p.G45fs

c.133_134fs

Histone

exact variant not in gnomAD246 overlapping SVs

1 paper

chr1:143905671 G>T

NM_001372105.2

p.A99D

c.296C>A

Histone

exact variant not in gnomAD246 overlapping SVs

1 paper

chr1:143905643 C>T

NM_001372105.2

p.T108T

c.324G>A

Histone

Exome: 0.0% (AC=3, hom=0)Genome: n/a246 overlapping SVs

1 paper

chr1:143905640 G>C

NM_001372105.2

p.N109K

c.327C>G

Histone

Exome: 0.0% (AC=10, hom=0)Genome: 0.0% (AC=21, hom=0)246 overlapping SVs

1 paper

chr1:143905640 G>T

NM_001372105.2

p.N109K

c.327C>A

Histone

Exome: 0.0% (AC=128, hom=15)Genome: 0.0% (AC=26, hom=2)246 overlapping SVs

1 paper

chr1:143905584 A>G

NM_001372105.2

p.V128A

c.383T>C

Histone

Exome: 0.0% (AC=13, hom=3)Genome: 0.0% (AC=1, hom=0)246 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."