Varaico: Literature-Extracted Genetic Variants

Gene:DNAJC12
Variant:p.S26_V27Splc

DNAJC12

81 papers

RefSeq Summary

This gene encodes a member of a subclass of the HSP40/DnaJ protein family. Members of this family of proteins are associated with complex assembly, protein folding, and export. Two transcript variants...

Pfam Domains

DnaJaa 14–76UCSCDnaJ domain

Gene Aliases

HGNC Name

DnaJ heat shock protein family (Hsp40) member C12

HGNC Alias Symbol

JDP1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
9 papers
NM_021800.3
p.S26_V27Splc
c.79-2A>G
Surrounding Variants
1 paper
NM_021800.3
p.S26_V27Splc
c.79-2A>C
5 papers
NM_021800.3
p.V27fs
c.79_80fs
3 papers
NM_021800.3
p.Q29fs
c.85_86fs
8 papers
NM_021800.3
p.Q29delFs
c.85delG
1 paper
NM_021800.3
p.Q29H
c.87A>T
1 paper
NM_021800.3
p.Q29H
c.87A>C
1 paper
NM_021800.3
p.Q29fs
c.85_86fs
1 paper
NM_021800.3
p.A32A
c.96A>G
1 paper
NM_021800.3
p.E33*
c.97G>T
1 paper
NM_021800.3
p.F34fs
c.100_101fs
1 paper
NM_021800.3
p.F34delFs
c.102delA
1 paper
NM_021800.3
p.V36V
c.108C>G
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."