Varaico: Literature-Extracted Genetic Variants

Gene:DNAJB1
Variant:p.K242R

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.K242R
c.725A>G
Surrounding Variants
1 paper
NM_006145.3
p.K242fs
c.724_725fs
1 paper
NM_006145.3
p.K242insFs
c.725dupA
1 paper
NM_006145.3
p.K240N
c.720G>T
1 paper
NM_006145.3
p.K240N
c.720G>C
1 paper
NM_006145.3
p.H244R
c.731A>G
1 paper
NM_006145.3
p.H244Q
c.732C>G
1 paper
NM_006145.3
p.H244Q
c.732C>A
1 paper
NM_006145.3
p.R249T
c.746G>C
5 papers
NM_006145.3
p.R249S
c.747A>T
5 papers
NM_006145.3
p.R249S
c.747A>C
1 paper
NM_006145.3
p.D234A
c.701A>C
1 paper
NM_006145.3
p.Y256F
c.767A>T
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