Varaico: Literature-Extracted Genetic Variants

Gene:H2AC6
Variant:p.R78H

H2AC6

38 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 6

HGNC Previous Symbols

H2AFL; HIST1H2AC

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_003512.4
p.R78H
c.233G>A
Surrounding Variants
1 paper
NM_003512.4
p.R78P
c.233G>C
1 paper
NM_003512.4
p.I79V
c.235A>G
1 paper
NM_003512.4
p.T77I
c.230C>T
1 paper
NM_003512.4
p.I79N
c.236T>A
1 paper
NM_003512.4
p.I79T
c.236T>C
1 paper
NM_003512.4
p.K76N
c.228G>C
1 paper
NM_003512.4
p.K76N
c.228G>T
1 paper
NM_003512.4
p.I80T
c.239T>C
1 paper
NM_003512.4
p.P81fs
c.241_242fs
2 papers
NM_003512.4
p.K75N
c.225G>C
2 papers
NM_003512.4
p.K75N
c.225G>T
1 paper
NM_003512.4
p.P81Q
c.242C>A
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