Varaico: Literature-Extracted Genetic Variants

DNAJA3

54 papers

RefSeq Summary

This gene encodes a member of the DNAJ/Hsp40 protein family. DNAJ/Hsp40 proteins stimulate the ATPase activity of Hsp70 chaperones and play critical roles in protein folding, degradation, and multimer...

Pfam Domains

DnaJaa 93–155UCSCDnaJ domain

DnaJ_Caa 209–413UCSCDnaJ C terminal domain

DnaJ_CXXCXGXGaa 236–296UCSCDnaJ central domain

Gene Aliases

HGNC Name

DnaJ heat shock protein family (Hsp40) member A3

HGNC Previous Symbol

TID1

Papers

RefSeq ID

Protein change

DNA change

1–12 of 39 variants

3 papers

NM_005147.6

p.N75Y

c.223A>T

3 papers

NM_005147.6

p.H121Q

c.363C>A

3 papers

NM_005147.6

p.H121Q

c.363C>G

3 papers

NM_005147.6

p.A428T

c.1282G>A

2 papers

NM_005147.6

p.P88A

c.262C>G

2 papers

NM_005147.6

p.R151T

c.452G>C

1 paper

NM_005147.6

p.C5F

c.14G>T

1 paper

NM_005147.6

p.A27A

c.81C>A

1 paper

NM_005147.6

p.A47V

c.140C>T

1 paper

NM_005147.6

p.Y95H

c.283T>C

1 paper

NM_005147.6

p.G99G

c.297A>T

1 paper

NM_005147.6

p.K119N

c.357G>C