Varaico: Literature-Extracted Genetic Variants

Gene:POMP

POMP

43 papers

RefSeq Summary

The protein encoded by this gene is a molecular chaperone that binds 20S preproteasome components and is essential for 20S proteasome formation. The 20S proteasome is the proteolytically active compon...

Pfam Domains

UMP1aa 22–138UCSCProteasome maturation factor UMP1

Gene Aliases

HGNC Name

proteasome maturation protein

HGNC Previous Symbol

C13orf12

Papers
RefSeq ID
Protein change
DNA change
1–12 of 37 variants
11 papers
NM_015932.6
p.E115fs
c.343_344fs
9 papers
NM_015932.6
p.E115insFs
c.344_345ins5
5 papers
NM_015932.6
p.I112delFs
c.334_335delAT
5 papers
NM_015932.6
p.I112fs
c.334_335fs
4 papers
NM_015932.6
p.F114fs
c.340_341fs
3 papers
NM_015932.6
p.F114_D116Fs
c.342_348delinsACCFs
2 papers
NM_015932.6
p.P15insFs
c.44_45insG
2 papers
NM_015932.6
p.D109fs
c.325_326fs
1 paper
NM_015932.6
p.G5*
c.13G>T
1 paper
NM_015932.6
p.L6L
c.18T>A
1 paper
NM_015932.6
p.E9D
c.27G>C
1 paper
NM_015932.6
p.E9D
c.27G>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."