Varaico: Literature-Extracted Genetic Variants

Gene:HSP90AA1
Variant:p.D240G

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.D240G
c.719A>G
Surrounding Variants
2 papers
NM_005348.4
p.K241*
c.721A>T
6 papers
NM_005348.4
p.K241E
c.721A>G
2 papers
NM_005348.4
p.K241fs
c.721_722fs
1 paper
NM_005348.4
p.K241R
c.722A>G
1 paper
NM_005348.4
p.K238delFs
c.713_714delCT
1 paper
NM_005348.4
p.E242*
c.724G>T
1 paper
NM_005348.4
p.E242K
c.724G>A
1 paper
NM_005348.4
p.K241del1
c.721_722delTTT
1 paper
NM_005348.4
p.E242G
c.725A>G
1 paper
NM_005348.4
p.E242E
c.726A>G
1 paper
NM_005348.4
p.K238E
c.712A>G
1 paper
NM_005348.4
p.E243K
c.727G>A
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