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

3 papers

NM_018026.4

p.A805T

c.2413G>A

Surrounding Variants

1 paper

NM_018026.4

p.S798F

c.2393C>T

1 paper

NM_018026.4

p.T793M

c.2378C>T

1 paper

NM_018026.4

p.R790Q

c.2369G>A

1 paper

NM_018026.4

p.P778fs

c.2332_2333fs

1 paper

NM_018026.4

p.V777insFs

c.2330_2331dupTG

1 paper

NM_018026.4

p.G765G

c.2295C>T

1 paper

NM_018026.4

p.G829S

c.2485G>A

1 paper

NM_018026.4

p.D839N

c.2515G>A

1 paper

NM_018026.4

p.V856A

c.2567T>C

1 paper

NM_018026.4

p.G865R

c.2593G>A

1 paper

NM_018026.4

p.G865R

c.2593G>C

1 paper

NM_018026.4

p.E739K

c.2215G>A