Varaico: Literature-Extracted Genetic Variants

PACS1

189 papers

RefSeq Summary

This gene encodes a protein with a putative role in the localization of trans-Golgi network (TGN) membrane proteins. Mouse and rat homologs have been identified and studies of the homologous rat prote...

Pfam Domains

C2_PACS_Naa 99–260UCSCN-terminal C2 domain of phosphofurin acidic cluster sorting protein

Pacs-1aa 548–960UCSCPACS-1 cytosolic sorting protein

Gene Aliases

HGNC Name

phosphofurin acidic cluster sorting protein 1

HGNC Alias Symbols

FLJ10209; KIAA1175

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_018026.4

p.A728delFs

c.2184delC

Surrounding Variants

1 paper

NM_018026.4

p.L723_P724insGGA

c.2167_2171ins9

1 paper

NM_018026.4

p.R733W

c.2197C>T

1 paper

NM_018026.4

p.R733Q

c.2198G>A

1 paper

NM_018026.4

p.V710G

c.2129T>G

1 paper

NM_018026.4

p.V706M

c.2116G>A

1 paper

NM_018026.4

p.E739K

c.2215G>A

1 paper

NM_018026.4

p.S696W

c.2087C>G

1 paper

NM_018026.4

p.S696L

c.2087C>T

1 paper

NM_018026.4

p.K679N

c.2037A>C

1 paper

NM_018026.4

p.K679N

c.2037A>T

2 papers

NM_018026.4

p.M657L

c.1969A>C

2 papers

NM_018026.4

p.M657L

c.1969A>T