Varaico: Literature-Extracted Genetic Variants

DNAJC3

176 papers

RefSeq Summary

This gene encodes a protein with multiple tetratricopeptide repeat (TPR) motifs as well as the highly conserved J domain found in DNAJ chaperone family members. It is a member of the tetratricopeptide...

Pfam Domains

TPR_16aa 41–103UCSCTetratricopeptide repeat

TPR_1aa 106–138UCSCTetratricopeptide repeat

TPR_8aa 222–255UCSCTetratricopeptide repeat

DnaJaa 394–459UCSCDnaJ domain

Gene Aliases

HGNC Name

DnaJ heat shock protein family (Hsp40) member C3

HGNC Previous Symbol

PRKRI

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_006260.5

p.Y356H

c.1066T>C

Surrounding Variants

1 paper

NM_006260.5

p.E354Q

c.1060G>C

1 paper

NM_006260.5

p.L351_I352ins4

c.1051_1055ins12

1 paper

NM_006260.5

p.Y350C

c.1049A>G

2 papers

NM_006260.5

p.R346Q

c.1037G>A

4 papers

NM_006260.5

p.R346*

c.1036C>T

1 paper

NM_006260.5

p.V340V

c.1020G>T

1 paper

NM_006260.5

p.D338G

c.1013A>G

1 paper

NM_006260.5

p.E336*

c.1006G>T

1 paper

NM_006260.5

p.K321R

c.962A>G

1 paper

NM_006260.5

p.K318_D319Splc

c.955-2A>T

1 paper

NM_006260.5

p.C313_C315delFs

c.938_945del8

1 paper

NM_006260.5

p.R307R

c.921T>C