Varaico: Literature-Extracted Genetic Variants

Gene:HSP90AA1
Variant:p.I78V

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
1 paper
NM_005348.4
p.I78V
c.232A>G
Surrounding Variants
1 paper
NM_005348.4
p.I81delFs
c.241delT
2 papers
NM_005348.4
p.G73G
c.219G>A
1 paper
NM_005348.4
p.I81_P82delFs
c.243_244delGT
1 paper
NM_005348.4
p.P82P
c.246G>A
1 paper
NM_005348.4
p.S72S
c.216T>A
3 papers
NM_005348.4
p.S72C
c.215C>G
1 paper
NM_005348.4
p.S72Y
c.215C>A
1 paper
NM_005348.4
p.K84E
c.250A>G
1 paper
NM_005348.4
p.K84R
c.251A>G
1 paper
NM_005348.4
p.Q85L
c.254A>T
1 paper
NM_005348.4
p.R87G
c.259C>G
2 papers
NM_005348.4
p.K69Q
c.205A>C
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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."