Varaico: Literature-Extracted Genetic Variants

Gene:HIRA
Variant:p.S304G

HIRA

167 papers

RefSeq Summary

This gene encodes a histone chaperone that preferentially places the variant histone H3.3 in nucleosomes. Orthologs of this gene in yeast, flies, and plants are necessary for the formation of transcri...

Pfam Domains

Beta-prop_CAF1B_HIR1aa 1–218UCSCCAF1B/HIR1 beta-propeller domain
Hiraaa 764–962UCSCTUP1-like enhancer of split

Gene Aliases

HGNC Name

histone cell cycle regulator

HGNC Previous Symbol

TUPLE1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003325.4
p.S304G
c.910A>G
Surrounding Variants
1 paper
NM_003325.4
p.Q285H
c.855G>T
1 paper
NM_003325.4
p.Q285H
c.855G>C
1 paper
NM_003325.4
p.K282R
c.845A>G
1 paper
NM_003325.4
p.A270D
c.809C>A
1 paper
NM_003325.4
p.S231A
c.691T>G
2 papers
NM_003325.4
p.T314_C315delFs
c.942_943delAT
1 paper
NM_003325.4
p.E325K
c.973G>A
1 paper
NM_003325.4
p.L344S
c.1031T>C
1 paper
NM_003325.4
p.W206*
c.618G>A
1 paper
NM_003325.4
p.L204L
c.612G>A
1 paper
NM_003325.4
p.A193A
c.579T>A
1 paper
NM_003325.4
p.G175_L176insFs
c.525_526ins7
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