Varaico: Literature-Extracted Genetic Variants

Gene:PCM1
Variant:p.M1377I

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.M1377I
c.4131G>C
Surrounding Variants
1 paper
NM_006197.4
p.M1377I
c.4131G>A
1 paper
NM_006197.4
p.M1377I
c.4131G>T
1 paper
NM_006197.4
p.R1382G
c.4144C>G
1 paper
NM_006197.4
p.D1383G
c.4148A>G
1 paper
NM_006197.4
p.H1408Y
c.4222C>T
1 paper
NM_006197.4
p.L1423_Y1424delFs
c.4269_4272del4
1 paper
NM_006197.4
p.Y1424fs
c.4270_4271fs
1 paper
NM_006197.4
p.Q1427E
c.4279C>G
1 paper
NM_006197.4
p.D1428G
c.4283A>G
1 paper
NM_006197.4
p.I1434V
c.4300A>G
1 paper
NM_006197.4
p.W1452R
c.4354T>A
1 paper
NM_006197.4
p.W1452R
c.4354T>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."