Varaico: Literature-Extracted Genetic Variants

Gene:DNAJB1

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
1–12 of 206 variants
5 papers
NM_006145.3
p.H32Q
c.96C>G
5 papers
NM_006145.3
p.H32Q
c.96C>A
5 papers
NM_006145.3
p.R249S
c.747A>T
5 papers
NM_006145.3
p.R249S
c.747A>C
4 papers
NM_006145.3
p.F94L
c.282C>A
4 papers
NM_006145.3
p.G178R
c.532G>C
3 papers
NM_006145.3
p.F94L
c.280T>C
3 papers
NM_006145.3
p.F94L
c.282C>G
3 papers
NM_006145.3
p.P192T
c.574C>A
3 papers
NM_006145.3
p.D201E
c.603C>A
2 papers
NM_006145.3
p.M1I
c.3G>A
2 papers
NM_006145.3
p.D4D
c.12C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."