Varaico: Literature-Extracted Genetic Variants

Gene:HSP90B1
Variant:p.R503Q

HSP90B1

211 papers

RefSeq Summary

This gene encodes a member of a family of adenosine triphosphate(ATP)-metabolizing molecular chaperones with roles in stabilizing and folding other proteins. The encoded protein is localized to melano...

Pfam Domains

HATPase_c_3aa 94–235UCSCHistidine kinase-, DNA gyrase B-, and HSP90-like ATPase
HSP90aa 257–778UCSCHsp90 protein

Gene Aliases

HGNC Name

heat shock protein 90 beta family member 1

HGNC Previous Symbol

TRA1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_003299.3
p.R503Q
c.1508G>A
Surrounding Variants
2 papers
NM_003299.3
p.T504I
c.1511C>T
1 paper
NM_003299.3
p.I497T
c.1490T>C
1 paper
NM_003299.3
p.V496M
c.1486G>A
1 paper
NM_003299.3
p.K493T
c.1478A>C
2 papers
NM_003299.3
p.T519A
c.1555A>G
1 paper
NM_003299.3
p.W485fs
c.1453_1454fs
2 papers
NM_003299.3
p.T483I
c.1448C>T
1 paper
NM_003299.3
p.D482H
c.1444G>C
1 paper
NM_003299.3
p.Y527F
c.1580A>T
1 paper
NM_003299.3
p.I472I
c.1416C>T
1 paper
NM_003299.3
p.M471I
c.1413G>A
1 paper
NM_003299.3
p.M471I
c.1413G>C
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