Varaico: Literature-Extracted Genetic Variants

Gene:DNAJC28
Variant:p.L316fs

DNAJC28

21 papers

RefSeq Summary

This gene encodes a member of the DnaJ heat shock protein family. The encoded protein, which contains a conserved N-terminal DnaJ domain, is thought to play a role in protein folding or act as a molec...

Pfam Domains

DnaJaa 51–108UCSCDnaJ domain
DJC28_CDaa 203–271UCSCDnaJ homologue, subfamily C, member 28, conserved domain

Gene Aliases

HGNC Name

DnaJ heat shock protein family (Hsp40) member C28

HGNC Previous Symbol

C21orf55

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001040192.3
p.L316fs
c.946_947fs
Surrounding Variants
2 papers
NM_001040192.3
p.L316fs
c.946_947fs
1 paper
NM_001040192.3
p.F314fs
c.940_941fs
3 papers
NM_001040192.3
p.L316_I317delFs
c.947_951del5
1 paper
NM_001040192.3
p.L316_I317del2
c.946_950del6
1 paper
NM_001040192.3
p.R310*
c.928C>T
1 paper
NM_001040192.3
p.T288A
c.862A>G
1 paper
NM_001040192.3
p.D352N
c.1054G>A
1 paper
NM_001040192.3
p.Q360_K365del6
c.1078_1094del18
1 paper
NM_001040192.3
p.S264S
c.792C>T
1 paper
NM_001040192.3
p.L374*
c.1121T>G
1 paper
NM_001040192.3
p.L374*
c.1121T>A
1 paper
NM_001040192.3
p.L374delFs
c.1121delA
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