Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:H2AC12

Variant:p.R21L

H2AC12

24 papers

RefSeq Summary

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

Pfam Domains

Histoneaa 4–90UCSCCore histone H2A/H2B/H3/H4 domain

Histone_H2A_Caa 92–126UCSCC-terminus of histone H2A

Gene Aliases

HGNC Name

H2A clustered histone 12

HGNC Previous Symbol

HIST1H2AH

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr6:27147190 G>T

NM_080596.3

p.R21L

c.62G>T

Histone

Exome: 0.0% (AC=87, hom=1)Genome: 0.0% (AC=6, hom=0)45 overlapping SVs

Surrounding Variants

1 paper

chr6:27147187 C>T

NM_080596.3

p.S20F

c.59C>T

Histone

Exome: 0.0% (AC=63, hom=0)Genome: 0.0% (AC=8, hom=0)45 overlapping SVs

1 paper

chr6:27147174 A>G

NM_080596.3

p.K16E

c.46A>G

Histone

Exome: 0.0% (AC=7, hom=0)Genome: n/a45 overlapping SVs

1 paper

chr6:27147207 C>A

NM_080596.3

p.P27T

c.79C>A

Histone

exact variant not in gnomAD45 overlapping SVs

1 paper

chr6:27147165 G>T

NM_080596.3

p.A13S

c.37G>T

Histone

Exome: 0.0% (AC=18, hom=0)Genome: 0.0% (AC=24, hom=0)45 overlapping SVs

1 paper

chr6:27147217 G>C

NM_080596.3

p.R30P

c.89G>C

Histone

exact variant not in gnomAD45 overlapping SVs

2 papers

chr6:27147218 A>C

NM_080596.3

p.R30R

c.90A>C

Histone

Exome: 0.0% (AC=1, hom=0)Genome: n/a45 overlapping SVs

1 paper

chr6:27147219 G>A

NM_080596.3

p.V31M

c.91G>A

Histone

Exome: 0.0% (AC=13, hom=0)Genome: 0.0% (AC=20, hom=0)45 overlapping SVs

1 paper

chr6:27147226 G>C

NM_080596.3

p.R33P

c.98G>C

Histone

Exome: 0.0% (AC=1, hom=0)Genome: n/a45 overlapping SVs

1 paper

chr6:27147229 T>G

NM_080596.3

p.L34R

c.101T>G

Histone

exact variant not in gnomAD45 overlapping SVs

1 paper

chr6:27147234 C>T

NM_080596.3

p.R36C

c.106C>T

Histone

Exome: 0.0% (AC=45, hom=0)Genome: 0.0% (AC=42, hom=0)45 overlapping SVs

1 paper

chr6:27147141 G>T

NM_080596.3

p.G5C

c.13G>T

Histone

Exome: 0.0% (AC=2, hom=0)Genome: n/a45 overlapping SVs

1 paper

chr6:27147138 C>T

NM_080596.3

p.R4C

c.10C>T

Histone

Exome: 0.0% (AC=9, hom=0)Genome: 0.0% (AC=4, hom=0)45 overlapping SVs

UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."