Varaico: Literature-Extracted Genetic Variants

Gene:DNAJB12
Variant:p.P54T

DNAJB12

32 papers

RefSeq Summary

DNAJB12 belongs to the evolutionarily conserved DNAJ/HSP40 family of proteins, which regulate molecular chaperone activity by stimulating ATPase activity. DNAJ proteins may have up to 3 distinct domai...

Pfam Domains

DnaJaa 110–171UCSCDnaJ domain
DUF1977aa 261–366UCSCDomain of unknown function (DUF1977)

Gene Aliases

HGNC Name

DnaJ heat shock protein family (Hsp40) member B12

HGNC Alias Symbols

DJ10; FLJ20027

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_017626.7
p.P54T
c.160C>A
Surrounding Variants
1 paper
NM_017626.7
p.N51S
c.152A>G
1 paper
NM_017626.7
p.A57A
c.171C>T
1 paper
NM_017626.7
p.H71R
c.212A>G
1 paper
NM_017626.7
p.Y112C
c.335A>G
1 paper
NM_017626.7
p.D123N
c.367G>A
1 paper
NM_017626.7
p.H185H
c.555T>C
1 paper
NM_017626.7
p.F208Y
c.623T>A
1 paper
NM_017626.7
p.F208delFs
c.624delA
1 paper
NM_017626.7
p.R226H
c.677G>A
1 paper
NM_017626.7
p.Y305H
c.913T>C
1 paper
NM_017626.7
p.E337K
c.1009G>A
1 paper
NM_017626.7
p.G338S
c.1012G>A
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