Varaico: Literature-Extracted Genetic Variants

Gene:PCM1
Variant:p.M200T

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
2 papers
NM_006197.4
p.M200T
c.599T>C
Surrounding Variants
2 papers
NM_006197.4
p.M200I
c.600G>A
2 papers
NM_006197.4
p.M200I
c.600G>C
2 papers
NM_006197.4
p.M200I
c.600G>T
1 paper
NM_006197.4
p.S203N
c.608G>A
1 paper
NM_006197.4
p.G194W
c.580G>T
3 papers
NM_006197.4
p.A176D
c.527C>A
1 paper
NM_006197.4
p.A169T
c.505G>A
1 paper
NM_006197.4
p.G167A
c.500G>C
1 paper
NM_006197.4
p.R163fs
c.487_488fs
9 papers
NM_006197.4
p.N159S
c.476A>G
1 paper
NM_006197.4
p.N159I
c.476A>T
4 papers
NM_006197.4
p.N159delins
c.476_477delinsGT
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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."