Varaico: Literature-Extracted Genetic Variants

Gene:PCM1
Variant:p.A691S

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
5 papers
NM_006197.4
p.A691S
c.2071G>T
Surrounding Variants
1 paper
NM_006197.4
p.D697N
c.2089G>A
1 paper
NM_006197.4
p.D697G
c.2090A>G
2 papers
NM_006197.4
p.A702T
c.2104G>A
2 papers
NM_006197.4
p.E703K
c.2107G>A
1 paper
NM_006197.4
p.N709I
c.2126A>T
1 paper
NM_006197.4
p.D723A
c.2168A>C
2 papers
NM_006197.4
p.D723V
c.2168A>T
1 paper
NM_006197.4
p.Q743fs
c.2227_2228fs
1 paper
NM_006197.4
p.D758N
c.2272G>A
1 paper
NM_006197.4
p.I759V
c.2275A>G
1 paper
NM_006197.4
p.C770F
c.2309G>T
1 paper
NM_006197.4
p.G781C
c.2341G>T
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