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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:H1-6

Variant:p.E50G

H1-6

43 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 41–112UCSClinker histone H1 and H5 family

Gene Aliases

HGNC Name

H1.6 linker histone, cluster member

HGNC Previous Symbols

H1FT; HIST1H1T

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

2 papers

chr6:26107945 T>C

NM_005323.4

p.E50G

c.149A>G

Linker_histone

Exome: 0.2% (AC=2288, hom=6)Genome: 0.1% (AC=170, hom=0)50 overlapping SVs

Surrounding Variants

1 paper

chr6:26107946 C>T

NM_005323.4

p.E50K

c.148G>A

Linker_histone

Exome: 0.0% (AC=5, hom=0)Genome: n/a50 overlapping SVs

4 papers

chr6:26107940 G>A

NM_005323.4

p.L52F

c.154C>T

Linker_histone

Exome: 9.5% (AC=139537, hom=14529)Genome: 11.5% (AC=17469, hom=1795)50 overlapping SVs

1 paper

chr6:26107940 G>T

NM_005323.4

p.L52I

c.154C>A

Linker_histone

exact variant not in gnomAD50 overlapping SVs

1 paper

chr6:26107956 C>A

NM_005323.4

p.K46N

c.138G>T

Linker_histone

exact variant not in gnomAD50 overlapping SVs

1 paper

chr6:26107956 C>G

NM_005323.4

p.K46N

c.138G>C

Linker_histone

Exome: 0.0% (AC=4, hom=0)Genome: 0.0% (AC=2, hom=0)50 overlapping SVs

1 paper

chr6:26107957 T>C

NM_005323.4

p.K46R

c.137A>G

Linker_histone

Exome: 0.0% (AC=2, hom=0)Genome: 0.0% (AC=1, hom=0)50 overlapping SVs

1 paper

chr6:26107921 C>T

NM_005323.4

p.R58Q

c.173G>A

Linker_histone

Exome: 0.0% (AC=7, hom=0)Genome: 0.0% (AC=1, hom=0)50 overlapping SVs

1 paper

chr6:26107912 A>G

NM_005323.4

p.M61T

c.182T>C

Linker_histone

Exome: 0.0% (AC=398, hom=0)Genome: 0.0% (AC=10, hom=0)50 overlapping SVs

1 paper

chr6:26107979 C>T

NM_005323.4

p.V39M

c.115G>A

Exome: 0.0% (AC=9, hom=0)Genome: 0.0% (AC=2, hom=0)50 overlapping SVs

1 paper

chr6:26107907 CAA>N

NM_005323.4

p.L63fs

c.187_188fs

Linker_histone

exact variant not in gnomAD50 overlapping SVs

1 paper

chr6:26107985 G>A

NM_005323.4

p.R37C

c.109C>T

Exome: 0.0% (AC=29, hom=0)Genome: 0.0% (AC=5, hom=0)50 overlapping SVs

1 paper

chr6:26107991 C>A

NM_005323.4

p.A35S

c.103G>T

exact variant not in gnomAD50 overlapping SVs

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