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.R506W

c.1516C>T

Surrounding Variants

2 papers

NM_018026.4

p.R525K

c.1574G>A

1 paper

NM_018026.4

p.S531R

c.1591A>C

1 paper

NM_018026.4

p.S531N

c.1592G>A

1 paper

NM_018026.4

p.S531R

c.1593C>A

1 paper

NM_018026.4

p.S531R

c.1593C>G

1 paper

NM_018026.4

p.Q491*

c.1471C>T

1 paper

NM_018026.4

p.K484*

c.1450A>T

1 paper

NM_018026.4

p.T471M

c.1412C>T

1 paper

NM_018026.4

p.S470G

c.1408A>G

1 paper

NM_018026.4

p.L458_E459Splc

c.1375-4G>A

1 paper

NM_018026.4

p.D573E

c.1719C>A

1 paper

NM_018026.4

p.D573E

c.1719C>G