Varaico: Literature-Extracted Genetic Variants

Gene:HSP90AA1
Variant:p.K185fs

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.K185fs
c.553_554fs
Surrounding Variants
2 papers
NM_005348.4
p.T184A
c.550A>G
1 paper
NM_005348.4
p.G183E
c.548G>A
1 paper
NM_005348.4
p.I187F
c.559A>T
1 paper
NM_005348.4
p.I187T
c.560T>C
1 paper
NM_005348.4
p.R182C
c.544C>T
1 paper
NM_005348.4
p.R182G
c.544C>G
1 paper
NM_005348.4
p.L188P
c.563T>C
2 papers
NM_005348.4
p.M180T
c.539T>C
1 paper
NM_005348.4
p.H189H
c.567C>T
3 papers
NM_005348.4
p.L190L
c.570G>A
1 paper
NM_005348.4
p.K191E
c.571A>G
1 paper
NM_005348.4
p.K191T
c.572A>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."