Varaico: Literature-Extracted Genetic Variants

Gene:PCM1
Variant:p.E994G

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.E994G
c.2981A>G
Surrounding Variants
2 papers
NM_006197.4
p.V987M
c.2959G>A
1 paper
NM_006197.4
p.Q1005K
c.3013C>A
1 paper
NM_006197.4
p.V1014A
c.3041T>C
1 paper
NM_006197.4
p.L1020S
c.3059T>C
1 paper
NM_006197.4
p.P967R
c.2900C>G
1 paper
NM_006197.4
p.M1021T
c.3062T>C
1 paper
NM_006197.4
p.R966H
c.2897G>A
2 papers
NM_006197.4
p.K954N
c.2862G>C
2 papers
NM_006197.4
p.K954N
c.2862G>T
1 paper
NM_006197.4
p.G1037C
c.3109G>T
1 paper
NM_006197.4
p.S1040I
c.3119G>T
1 paper
NM_006197.4
p.M1055V
c.3163A>G
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