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.G865R

c.2593G>C

Surrounding Variants

1 paper

NM_018026.4

p.G865R

c.2593G>A

1 paper

NM_018026.4

p.V856A

c.2567T>C

1 paper

NM_018026.4

p.D839N

c.2515G>A

1 paper

NM_018026.4

p.G829S

c.2485G>A

1 paper

NM_018026.4

p.V886Splc

c.2657-2A>C

1 paper

NM_018026.4

p.S911S

c.2733C>T

1 paper

NM_018026.4

p.A917S

c.2749G>T

1 paper

NM_018026.4

p.Q919*

c.2755C>T

1 paper

NM_018026.4

p.V926Splc

c.2776+59C>T

2 papers

NM_018026.4

p.V926Splc

c.2777-3T>C

1 paper

NM_018026.4

p.A943_P946del4

c.2827_2837del12

1 paper

NM_018026.4

p.A943_P946del0

c.2829_2837del9