Varaico: Literature-Extracted Genetic Variants

Gene:PCM1
Variant:p.E136G

PCM1

264 papers

RefSeq Summary

The protein encoded by this gene is a component of centriolar satellites, which are electron dense granules scattered around centrosomes. Inhibition studies show that this protein is essential for the...

Pfam Domains

PCM1_Caa 1372–1998UCSCPericentriolar material 1 C terminus
PCM1_Caa 1780–1834UCSCPericentriolar material 1 C terminus

Gene Aliases

HGNC Name

pericentriolar material 1

HGNC Alias Symbol

PTC4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006197.4
p.E136G
c.407A>G
Surrounding Variants
1 paper
NM_006197.4
p.L134V
c.400C>G
1 paper
NM_006197.4
p.K139R
c.416A>G
2 papers
NM_006197.4
p.M146V
c.436A>G
1 paper
NM_006197.4
p.Q147R
c.440A>G
1 paper
NM_006197.4
p.A125T
c.373G>A
1 paper
NM_006197.4
p.R124insFs
c.370_371insTG
1 paper
NM_006197.4
p.G123R
c.367G>C
1 paper
NM_006197.4
p.S121F
c.362C>T
1 paper
NM_006197.4
p.D120N
c.358G>A
3 papers
NM_006197.4
p.A156V
c.467C>T
9 papers
NM_006197.4
p.N159S
c.476A>G
1 paper
NM_006197.4
p.N159I
c.476A>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."