Varaico: Literature-Extracted Genetic Variants

Gene:DNAJB1
Variant:p.T180I

DNAJB1

362 papers

RefSeq Summary

This gene encodes a member of the DnaJ or Hsp40 (heat shock protein 40 kD) family of proteins. DNAJ family members are characterized by a highly conserved amino acid stretch called the 'J-domain' and ...

Pfam Domains

DnaJaa 4–65UCSCDnaJ domain
DnaJ_Caa 164–323UCSCDnaJ C terminal domain

Gene Aliases

HGNC Name

DnaJ heat shock protein family (Hsp40) member B1

HGNC Previous Symbol

HSPF1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006145.3
p.T180I
c.539C>T
Surrounding Variants
1 paper
NM_006145.3
p.K181N
c.543G>T
1 paper
NM_006145.3
p.K181N
c.543G>C
1 paper
NM_006145.3
p.K181delFs
c.543delC
1 paper
NM_006145.3
p.G178D
c.533G>A
4 papers
NM_006145.3
p.G178R
c.532G>C
2 papers
NM_006145.3
p.G178S
c.532G>A
1 paper
NM_006145.3
p.Y176F
c.527A>T
1 paper
NM_006145.3
p.E174A
c.521A>C
1 paper
NM_006145.3
p.E174K
c.520G>A
1 paper
NM_006145.3
p.E173D
c.519A>T
1 paper
NM_006145.3
p.E173A
c.518A>C
1 paper
NM_006145.3
p.L172del1
c.514_515delAAG
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