Varaico: Literature-Extracted Genetic Variants

Gene:HSP90AA1
Variant:p.E223insFs

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.E223insFs
c.667_668insC
Surrounding Variants
1 paper
NM_005348.4
p.V222_E223insFs
c.666_667insC
1 paper
NM_005348.4
p.V222V
c.666G>A
1 paper
NM_005348.4
p.D227H
c.679G>C
1 paper
NM_005348.4
p.E229D
c.687A>C
1 paper
NM_005348.4
p.S231R
c.693C>G
1 paper
NM_005348.4
p.D233N
c.697G>A
1 paper
NM_005348.4
p.E236G
c.707A>G
1 paper
NM_005348.4
p.E237Q
c.709G>C
1 paper
NM_005348.4
p.V230_E236del0
c.690_707del18
1 paper
NM_005348.4
p.K238E
c.712A>G
1 paper
NM_005348.4
p.K238delFs
c.713_714delCT
1 paper
NM_005348.4
p.D240G
c.719A>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."