Varaico: Literature-Extracted Genetic Variants

Gene:HSP90AA1
Variant:p.E18V

HSP90AA1

806 papers

RefSeq Summary

The protein encoded by this gene is an inducible molecular chaperone that functions as a homodimer. The encoded protein aids in the proper folding of specific target proteins by use of an ATPase activ...

Pfam Domains

HATPase_c_3aa 38–166UCSCHistidine kinase-, DNA gyrase B-, and HSP90-like ATPase
HATPase_c_3aa 38–166UCSCHistidine kinase-, DNA gyrase B-, and HSP90-like ATPase
HSP90aa 196–723UCSCHsp90 protein

Gene Aliases

HGNC Name

heat shock protein 90 alpha family class A member 1

HGNC Previous Symbols

HSPC1; HSPCA; HSPCAL4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
7 papers
NM_005348.4
p.E18V
c.53A>T
Surrounding Variants
1 paper
NM_005348.4
p.E18D
c.54G>T
1 paper
NM_005348.4
p.E18D
c.54G>C
1 paper
NM_005348.4
p.E18K
c.52G>A
2 papers
NM_005348.4
p.A21T
c.61G>A
1 paper
NM_005348.4
p.E15E
c.45G>A
1 paper
NM_005348.4
p.A21A
c.63C>G
1 paper
NM_005348.4
p.E13delFs
c.38delT
1 paper
NM_005348.4
p.A24T
c.70G>A
1 paper
NM_005348.4
p.P11L
c.32C>T
1 paper
NM_005348.4
p.E25A
c.74A>C
1 paper
NM_005348.4
p.P11T
c.31C>A
1 paper
NM_005348.4
p.Q10H
c.30A>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."