Varaico: Literature-Extracted Genetic Variants

MACROH2A1

45 papers

RefSeq Summary

Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histon...

Pfam Domains

Histoneaa 2–86UCSCCore histone H2A/H2B/H3/H4 domain

Macroaa 55–158UCSCMacro domain

Histone_H2A_Caa 89–123UCSCC-terminus of histone H2A

Macroaa 213–327UCSCMacro domain

Gene Aliases

HGNC Name

macroH2A.1 histone

HGNC Previous Symbol

H2AFY

Papers

RefSeq ID

Protein change

DNA change

1–12 of 39 variants

2 papers

NM_138610.3

p.V25M

c.73G>A

2 papers

NM_138610.3

p.R27Q

c.80G>A

1 paper

NM_138610.3

p.S2T

c.4T>A

1 paper

NM_138610.3

p.S2L

c.5C>T

1 paper

NM_138610.3

p.K12N

c.36G>T

1 paper

NM_138610.3

p.K12N

c.36G>C

1 paper

NM_138610.3

p.A19A

c.57A>G

1 paper

NM_138610.3

p.R27fs

c.79_80fs

1 paper

NM_138610.3

p.K34N

c.102A>T

1 paper

NM_138610.3

p.K34N

c.102A>C

1 paper

NM_138610.3

p.H36Q

c.108C>G

1 paper

NM_138610.3

p.H36Q

c.108C>A