Varaico: Literature-Extracted Genetic Variants

PCLO

482 papers

RefSeq Summary

The protein encoded by this gene is part of the presynaptic cytoskeletal matrix, which is involved in establishing active synaptic zones and in synaptic vesicle trafficking. Variations in this gene ha...

Pfam Domains

zf-piccoloaa 587–646UCSCPiccolo Zn-finger

zf-piccoloaa 1057–1115UCSCPiccolo Zn-finger

PDZaa 4502–4588UCSCPDZ domain

C2aa 4707–4825UCSCC2 domain

C2aa 5024–5134UCSCC2 domain

Gene Aliases

HGNC Name

piccolo presynaptic cytomatrix protein

HGNC Alias Symbols

KIAA0559; DKFZp779G1236; ACZ

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

7 papers

NM_033026.6

p.F2220L

c.6660T>A

Surrounding Variants

7 papers

NM_033026.6

p.F2220L

c.6660T>G

7 papers

NM_033026.6

p.F2220L

c.6658T>C

1 paper

NM_033026.6

p.S2223Y

c.6668C>A

1 paper

NM_033026.6

p.E2224D

c.6672G>T

1 paper

NM_033026.6

p.E2224D

c.6672G>C

1 paper

NM_033026.6

p.M2216L

c.6646A>T

1 paper

NM_033026.6

p.M2216L

c.6646A>C

1 paper

NM_033026.6

p.E2225fs

c.6673_6674fs

1 paper

NM_033026.6

p.D2215Y

c.6643G>T

1 paper

NM_033026.6

p.S2227P

c.6679T>C

1 paper

NM_033026.6

p.P2213L

c.6638C>T

1 paper

NM_033026.6

p.P2213S

c.6637C>T