Varaico: Literature-Extracted Genetic Variants

Gene:HIRA
Variant:p.E325K

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.E325K
c.973G>A
Surrounding Variants
2 papers
NM_003325.4
p.T314_C315delFs
c.942_943delAT
1 paper
NM_003325.4
p.L344S
c.1031T>C
1 paper
NM_003325.4
p.A384V
c.1151C>T
1 paper
NM_003325.4
p.N398I
c.1193A>T
1 paper
NM_003325.4
p.Q409*
c.1225C>T
1 paper
NM_003325.4
p.Q409R
c.1226A>G
1 paper
NM_003325.4
p.R407_Q408del1
c.1221_1223delTGC
1 paper
NM_003325.4
p.S304G
c.910A>G
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.K447E
c.1339A>G
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