Varaico: Literature-Extracted Genetic Variants

Gene:DNAJB1
Variant:p.L9*

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.L9*
c.26T>A
Surrounding Variants
1 paper
NM_006145.3
p.T8A
c.22A>G
1 paper
NM_006145.3
p.A12T
c.34G>A
1 paper
NM_006145.3
p.R13C
c.37C>T
1 paper
NM_006145.3
p.Y5F
c.14A>T
1 paper
NM_006145.3
p.Y5C
c.14A>G
1 paper
NM_006145.3
p.Y5N
c.13T>A
2 papers
NM_006145.3
p.D4D
c.12C>T
1 paper
NM_006145.3
p.K3*
c.7A>T
1 paper
NM_006145.3
p.G2G
c.6T>A
1 paper
NM_006145.3
p.M1insFs
c.2_3insT
1 paper
NM_006145.3
p.D17H
c.49G>C
2 papers
NM_006145.3
p.M1I
c.3G>A
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."