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.A65delFs

c.194delC

Surrounding Variants

1 paper

NM_018026.4

p.A64_A65insG

c.190_194ins3

1 paper

NM_018026.4

p.S75A

c.223T>G

1 paper

NM_018026.4

p.T54I

c.161C>T

1 paper

NM_018026.4

p.A77_V78insT

c.229_233ins3

1 paper

NM_018026.4

p.A51insFs

c.152_153insC

1 paper

NM_018026.4

p.A79A

c.237G>A

1 paper

NM_018026.4

p.Q40delFs

c.120delG

1 paper

NM_018026.4

p.Q40fs

c.118_119fs

1 paper

NM_018026.4

p.G91V

c.272G>T

1 paper

NM_018026.4

p.Q38P

c.113A>C

1 paper

NM_018026.4

p.Q38L

c.113A>T

3 papers

NM_018026.4

p.Q35P

c.104A>C