Varaico: Literature-Extracted Genetic Variants

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

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

1–12 of 437 variants

16 papers

NM_005348.4

p.P301L

c.902C>T

7 papers

NM_005348.4

p.E18V

c.53A>T

7 papers

NM_005348.4

p.Q488H

c.1464G>T

7 papers

NM_005348.4

p.Q488H

c.1464G>C

6 papers

NM_005348.4

p.K241E

c.721A>G

6 papers

NM_005348.4

p.P301S

c.901C>T

5 papers

NM_005348.4

p.E47A

c.140A>C

5 papers

NM_005348.4

p.D93N

c.277G>A

4 papers

NM_005348.4

p.P67L

c.200C>T

4 papers

NM_005348.4

p.E196V

c.587A>T

3 papers

NM_005348.4

p.M1I

c.3G>A

3 papers

NM_005348.4

p.S72C

c.215C>G