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

1–12 of 126 variants

104 papers

NM_018026.4

p.R203W

c.607C>T

15 papers

NM_018026.4

p.R203Q

c.608G>A

3 papers

NM_018026.4

p.Q35P

c.104A>C

3 papers

NM_018026.4

p.S252F

c.755C>T

3 papers

NM_018026.4

p.R315W

c.943C>T

3 papers

NM_018026.4

p.A805T

c.2413G>A

2 papers

NM_018026.4

p.G17D

c.50G>A

2 papers

NM_018026.4

p.R203G

c.607C>G

2 papers

NM_018026.4

p.S278A

c.832T>G

2 papers

NM_018026.4

p.R525K

c.1574G>A

2 papers

NM_018026.4

p.M657L

c.1969A>C

2 papers

NM_018026.4

p.M657L

c.1969A>T