Varaico: Literature-Extracted Genetic Variants

HSP90AB1

199 papers

RefSeq Summary

This gene encodes a member of the heat shock protein 90 family; these proteins are involved in signal transduction, protein folding and degradation and morphological evolution. This gene encodes the c...

Pfam Domains

HATPase_c_3aa 33–161UCSCHistidine kinase-, DNA gyrase B-, and HSP90-like ATPase

HSP90aa 191–712UCSCHsp90 protein

Gene Aliases

HGNC Name

heat shock protein 90 alpha family class B member 1

HGNC Previous Symbols

HSPC2; HSPCB

Papers

RefSeq ID

Protein change

DNA change

1–12 of 178 variants

12 papers

NM_007355.4

p.R719H

c.2156G>A

3 papers

NM_007355.4

p.R449H

c.1346G>A

3 papers

NM_007355.4

p.T637M

c.1910C>T

3 papers

NM_007355.4

p.S666F

c.1997C>T

2 papers

NM_007355.4

p.Q18*

c.52C>T

2 papers

NM_007355.4

p.A116T

c.346G>A

2 papers

NM_007355.4

p.G172C

c.514G>T

2 papers

NM_007355.4

p.K247K

c.741A>G

2 papers

NM_007355.4

p.F508del1

c.1522_1523delTTC

2 papers

NM_007355.4

p.A702D

c.2105C>A

2 papers

NM_007355.4

p.L711L

c.2133C>T

2 papers

NM_007355.4

p.G713G

c.2139C>T