Varaico: Literature-Extracted Genetic Variants

DNAJC1

54 papers

RefSeq Summary

The membrane protein encoded by this gene is a DNAJ-like heat shock protein that binds the molecular chaperone BiP. In addition, the encoded protein contains two SANT domains that have been shown to b...

Pfam Domains

DnaJaa 65–126UCSCDnaJ domain

Myb_DNA-binding_2aa 328–382UCSCMyb-like DNA-binding domain

Myb_DNA-binding_2aa 495–554UCSCMyb-like DNA-binding domain

Gene Aliases

HGNC Name

DnaJ heat shock protein family (Hsp40) member C1

HGNC Alias Symbols

DNAJL1; ERdj1; MTJ1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_022365.4

p.L58V

c.172T>G

Surrounding Variants

1 paper

NM_022365.4

p.L53L

c.159G>C

2 papers

NM_022365.4

p.L39del1

c.115_117delCAG

1 paper

NM_022365.4

p.L39Fs

c.116delinsAGGFs

1 paper

NM_022365.4

p.T29K

c.86C>A

1 paper

NM_022365.4

p.R28insFs

c.82dupC

1 paper

NM_022365.4

p.P27_R28ins0

c.80_82dupCGC

1 paper

NM_022365.4

p.R28insFs

c.83_84insCA

1 paper

NM_022365.4

p.R28P

c.83G>C

1 paper

NM_022365.4

p.G13delFs

c.39delT