Varaico: Literature-Extracted Genetic Variants

PCNT

516 papers

RefSeq Summary

The protein encoded by this gene binds to calmodulin and is expressed in the centrosome. It is an integral component of the pericentriolar material (PCM). The protein contains a series of coiled-coil ...

Pfam Domains

AKAP9_coil_Naa 1417–1508UCSCAKAP9 N-terminal coiled coil domain

PACT_coil_coilaa 3138–3216UCSCPericentrin-AKAP-450 domain of centrosomal targeting protein

Gene Aliases

HGNC Name

pericentrin

HGNC Previous Symbol

PCNT2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

6 papers

NM_006031.6

p.G1452R

c.4354G>C

Surrounding Variants

7 papers

NM_006031.6

p.G1452R

c.4354G>A

1 paper

NM_006031.6

p.R1451H

c.4352G>A

1 paper

NM_006031.6

p.G1452G

c.4356G>T

1 paper

NM_006031.6

p.R1451C

c.4351C>T

3 papers

NM_006031.6

p.C1453G

c.4357T>G

1 paper

NM_006031.6

p.C1453W

c.4359T>G

1 paper

NM_006031.6

p.Q1449E

c.4345C>G

2 papers

NM_006031.6

p.Q1456*

c.4366C>T

1 paper

NM_006031.6

p.L1463M

c.4387C>A

1 paper

NM_006031.6

p.K1437N

c.4311G>C

1 paper

NM_006031.6

p.K1437N

c.4311G>T

2 papers

NM_006031.6

p.S1434Y

c.4301C>A