Varaico: Literature-Extracted Genetic Variants

Gene:HSP90AA1
Variant:p.L220F

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
2 papers
NM_005348.4
p.L220F
c.658C>T
Surrounding Variants
1 paper
NM_005348.4
p.T219I
c.656C>T
1 paper
NM_005348.4
p.T219A
c.655A>G
1 paper
NM_005348.4
p.F221_V222Splc
c.663+1G>T
1 paper
NM_005348.4
p.P217A
c.649C>G
1 paper
NM_005348.4
p.F213I
c.637T>A
1 paper
NM_005348.4
p.Q212R
c.635A>G
1 paper
NM_005348.4
p.S211F
c.632C>T
1 paper
NM_005348.4
p.S211A
c.631T>G
1 paper
NM_005348.4
p.K204T
c.611A>C
1 paper
NM_005348.4
p.E199K
c.595G>A
1 paper
NM_005348.4
p.L198S
c.593T>C
1 paper
NM_005348.4
p.Y197F
c.590A>T
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