Varaico: Literature-Extracted Genetic Variants

Gene:HSP90AB1
Variant:p.L541V

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
Selected Variant
1 paper
NM_007355.4
p.L541V
c.1621C>G
Surrounding Variants
1 paper
NM_007355.4
p.D546V
c.1637A>T
1 paper
NM_007355.4
p.E549_K550del2
c.1645_1649del6
1 paper
NM_007355.4
p.K552del1
c.1654_1655delAAG
1 paper
NM_007355.4
p.E554D
c.1662A>C
1 paper
NM_007355.4
p.E554D
c.1662A>T
1 paper
NM_007355.4
p.L525F
c.1573C>T
1 paper
NM_007355.4
p.E519delFs
c.1557delG
1 paper
NM_007355.4
p.C564F
c.1691G>T
1 paper
NM_007355.4
p.M567L
c.1699A>C
1 paper
NM_007355.4
p.M567L
c.1699A>T
1 paper
NM_007355.4
p.M513T
c.1538T>C
2 papers
NM_007355.4
p.F508del1
c.1522_1523delTTC
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."