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.Q38L

c.113A>T

Surrounding Variants

1 paper

NM_018026.4

p.Q38P

c.113A>C

1 paper

NM_018026.4

p.Q40fs

c.118_119fs

1 paper

NM_018026.4

p.Q40delFs

c.120delG

3 papers

NM_018026.4

p.Q35P

c.104A>C

1 paper

NM_018026.4

p.P33insFs

c.98_99insG

1 paper

NM_018026.4

p.S28C

c.83C>G

1 paper

NM_018026.4

p.A26insFs

c.77_78insT

1 paper

NM_018026.4

p.A26V

c.77C>T

1 paper

NM_018026.4

p.V25V

c.75C>T

1 paper

NM_018026.4

p.A51insFs

c.152_153insC

1 paper

NM_018026.4

p.T54I

c.161C>T

1 paper

NM_018026.4

p.G22insFs

c.64_65insT