Varaico: Literature-Extracted Genetic Variants

Gene:PCM1
Variant:p.T1279R

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.T1279R
c.3836C>G
Surrounding Variants
1 paper
NM_006197.4
p.K1281Q
c.3841A>C
1 paper
NM_006197.4
p.K1275N
c.3825A>C
1 paper
NM_006197.4
p.K1275N
c.3825A>T
3 papers
NM_006197.4
p.K1275E
c.3823A>G
1 paper
NM_006197.4
p.S1262G
c.3784A>G
1 paper
NM_006197.4
p.F1253C
c.3758T>G
2 papers
NM_006197.4
p.R1251H
c.3752G>A
1 paper
NM_006197.4
p.R1240C
c.3718C>T
1 paper
NM_006197.4
p.V1230L
c.3688G>C
1 paper
NM_006197.4
p.V1230L
c.3688G>T
1 paper
NM_006197.4
p.S1188F
c.3563C>T
4 papers
NM_006197.4
p.T1174A
c.3520A>G
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