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.N202delFs

c.605delA

Surrounding Variants

1 paper

NM_018026.4

p.N202fs

c.604_605fs

2 papers

NM_018026.4

p.R203G

c.607C>G

104 papers

NM_018026.4

p.R203W

c.607C>T

15 papers

NM_018026.4

p.R203Q

c.608G>A

1 paper

NM_018026.4

p.T204T

c.612C>T

1 paper

NM_018026.4

p.K198R

c.593A>G

1 paper

NM_018026.4

p.L206L

c.618G>A

1 paper

NM_018026.4

p.N188K

c.564C>A

1 paper

NM_018026.4

p.N188K

c.564C>G

1 paper

NM_018026.4

p.A187V

c.560C>T

1 paper

NM_018026.4

p.D186A

c.557A>C

1 paper

NM_018026.4

p.Y179Y

c.537C>T