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.A229T

c.685G>A

Surrounding Variants

1 paper

NM_018026.4

p.Q223H

c.669G>C

1 paper

NM_018026.4

p.Q223H

c.669G>T

1 paper

NM_018026.4

p.S236N

c.707G>A

1 paper

NM_018026.4

p.Y251S

c.752A>C

1 paper

NM_018026.4

p.S252T

c.754T>A

3 papers

NM_018026.4

p.S252F

c.755C>T

2 papers

NM_018026.4

p.S278A

c.832T>G

1 paper

NM_018026.4

p.S286S

c.858A>C

1 paper

NM_018026.4

p.E288K

c.862G>A

1 paper

NM_018026.4

p.D307N

c.919G>A

1 paper

NM_018026.4

p.R315_R316delFs

c.943_946del4

3 papers

NM_018026.4

p.R315W

c.943C>T