Varaico: Literature-Extracted Genetic Variants

Gene:HSP90AA1
Variant:p.L48V

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.L48V
c.142C>G
Surrounding Variants
1 paper
NM_005348.4
p.E47D
c.141G>T
1 paper
NM_005348.4
p.E47D
c.141G>C
1 paper
NM_005348.4
p.E47V
c.140A>T
5 papers
NM_005348.4
p.E47A
c.140A>C
1 paper
NM_005348.4
p.E47K
c.139G>A
1 paper
NM_005348.4
p.I49F
c.145A>T
1 paper
NM_005348.4
p.R46R
c.138A>G
1 paper
NM_005348.4
p.R46K
c.137G>A
1 paper
NM_005348.4
p.S50A
c.148T>G
1 paper
NM_005348.4
p.S50P
c.148T>C
1 paper
NM_005348.4
p.R46*
c.136A>T
1 paper
NM_005348.4
p.L45L
c.135G>A
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."