Varaico: Literature-Extracted Genetic Variants

Gene:DNAJC30
Variant:p.L53insFs

DNAJC30

70 papers

RefSeq Summary

This intronless gene encodes a member of the DNAJ molecular chaperone homology domain-containing protein family. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused ...

Pfam Domains

DnaJaa 49–111UCSCDnaJ domain

Gene Aliases

HGNC Name

DnaJ heat shock protein family (Hsp40) member C30

HGNC Previous Symbol

WBSCR18

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_032317.3
p.L53insFs
c.158_159insA
Surrounding Variants
32 papers
NM_032317.3
p.Y51C
c.152A>G
1 paper
NM_032317.3
p.S44fs
c.130_131fs
5 papers
NM_032317.3
p.S44delFs
c.130_131delGA
2 papers
NM_032317.3
p.S44fs
c.130_131fs
1 paper
NM_032317.3
p.Q40*
c.118C>T
1 paper
NM_032317.3
p.Y69S
c.206A>C
1 paper
NM_032317.3
p.R36K
c.107G>A
5 papers
NM_032317.3
p.G34R
c.100G>C
5 papers
NM_032317.3
p.G34R
c.100G>A
9 papers
NM_032317.3
p.P78S
c.232C>T
5 papers
NM_032317.3
p.H77del1
c.229_230delGTG
1 paper
NM_032317.3
p.D79D
c.237C>T
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