Varaico: Literature-Extracted Genetic Variants

Gene:HSP90AB1
Variant:p.G507_F508del1

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
2 papers
NM_007355.4
p.F508del1
c.1522_1523delTTC
Surrounding Variants
1 paper
NM_007355.4
p.R506W
c.1516C>T
1 paper
NM_007355.4
p.R502Q
c.1505G>A
1 paper
NM_007355.4
p.M513T
c.1538T>C
1 paper
NM_007355.4
p.A498T
c.1492G>A
1 paper
NM_007355.4
p.S497*
c.1490C>A
1 paper
NM_007355.4
p.S497*
c.1490C>G
1 paper
NM_007355.4
p.E519delFs
c.1557delG
1 paper
NM_007355.4
p.L525F
c.1573C>T
1 paper
NM_007355.4
p.G488Splc
c.1463-4A>T
1 paper
NM_007355.4
p.L541V
c.1621C>G
1 paper
NM_007355.4
p.D546V
c.1637A>T
1 paper
NM_007355.4
p.E549_K550del2
c.1645_1649del6
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