Varaico: Literature-Extracted Genetic Variants

Gene:HSP90AA1
Variant:p.K281fs

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.K281fs
c.841_842fs
Surrounding Variants
1 paper
NM_005348.4
p.I280delFs
c.840delA
1 paper
NM_005348.4
p.K281insFs
c.842_843insC
1 paper
NM_005348.4
p.I280ins1
c.838_839insAGA
3 papers
NM_005348.4
p.K279_I280del1
c.836_838delTCT
1 paper
NM_005348.4
p.E282K
c.844G>A
3 papers
NM_005348.4
p.K279M
c.836A>T
1 paper
NM_005348.4
p.K274N
c.822G>T
1 paper
NM_005348.4
p.K274N
c.822G>C
1 paper
NM_005348.4
p.E288V
c.863A>T
1 paper
NM_005348.4
p.G272V
c.815G>T
1 paper
NM_005348.4
p.L290I
c.868C>A
1 paper
NM_005348.4
p.E268_K269insFs
c.804_805insG
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