Varaico: Literature-Extracted Genetic Variants

Gene:PCM1
Variant:p.D574G

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.D574G
c.1721A>G
Surrounding Variants
1 paper
NM_006197.4
p.R576L
c.1727G>T
1 paper
NM_006197.4
p.E583_N586del0
c.1748_1756del9
1 paper
NM_006197.4
p.E559*
c.1675G>T
1 paper
NM_006197.4
p.T556A
c.1666A>G
3 papers
NM_006197.4
p.M597V
c.1789A>G
1 paper
NM_006197.4
p.S600fs
c.1798_1799fs
1 paper
NM_006197.4
p.S600delFs
c.1800delT
1 paper
NM_006197.4
p.D602H
c.1804G>C
2 papers
NM_006197.4
p.R604L
c.1811G>T
2 papers
NM_006197.4
p.E608G
c.1823A>G
2 papers
NM_006197.4
p.I613S
c.1838T>G
1 paper
NM_006197.4
p.A616T
c.1846G>A
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