Varaico: Literature-Extracted Genetic Variants

Gene:HIRA
Variant:p.Q660_S661Splc

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.Q660_S661Splc
c.1981-7C>T
Surrounding Variants
2 papers
NM_003325.4
p.L681M
c.2041C>A
1 paper
NM_003325.4
p.S650A
c.1948T>G
1 paper
NM_003325.4
p.R647R
c.1941G>A
1 paper
NM_003325.4
p.E639Q
c.1915G>C
1 paper
NM_003325.4
p.E632K
c.1894G>A
1 paper
NM_003325.4
p.E601D
c.1803G>T
1 paper
NM_003325.4
p.S719N
c.2156G>A
1 paper
NM_003325.4
p.C752R
c.2254T>C
1 paper
NM_003325.4
p.S758L
c.2273C>T
1 paper
NM_003325.4
p.R766C
c.2296C>T
2 papers
NM_003325.4
p.D800A
c.2399A>C
1 paper
NM_003325.4
p.A818V
c.2453C>T
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