Varaico: Literature-Extracted Genetic Variants

Gene:PCM1
Variant:p.H1352L

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.H1352L
c.4055A>T
Surrounding Variants
5 papers
NM_006197.4
p.E1353*
c.4057G>T
3 papers
NM_006197.4
p.C1361Y
c.4082G>A
2 papers
NM_006197.4
p.C1361F
c.4082G>T
1 paper
NM_006197.4
p.R1363K
c.4088G>A
1 paper
NM_006197.4
p.S1368_S1369delFs
c.4103_4106del4
1 paper
NM_006197.4
p.R1333T
c.3998G>C
1 paper
NM_006197.4
p.P1327L
c.3980C>T
1 paper
NM_006197.4
p.Y1316H
c.3946T>C
1 paper
NM_006197.4
p.M1377I
c.4131G>A
1 paper
NM_006197.4
p.M1377I
c.4131G>C
1 paper
NM_006197.4
p.M1377I
c.4131G>T
1 paper
NM_006197.4
p.R1382G
c.4144C>G
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