Varaico: Literature-Extracted Genetic Variants

Gene:HGH1

HGH1

12 papers

Pfam Domains

DUF383aa 112–287UCSCDomain of unknown function (DUF383)
DUF384aa 292–346UCSCDomain of unknown function (DUF384)

Gene Aliases

HGNC Name

HGH1 cochaperone

HGNC Previous Symbols

C8orf30A; FAM203B; C8orf30B; FAM203A

Papers
RefSeq ID
Protein change
DNA change
4 papers
NM_016458.4
p.G54V
c.161G>T
3 papers
NM_016458.4
p.E264Q
c.790G>C
1 paper
NM_016458.4
p.H174L
c.521A>T
1 paper
NM_016458.4
p.S181F
c.542C>T
1 paper
NM_016458.4
p.R198Splc
c.593+1G>T
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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."