Varaico: Literature-Extracted Genetic Variants

Gene:PACS2
Variant:p.E296K

PACS2

119 papers

Pfam Domains

C2_PACS_Naa 20–181UCSCN-terminal C2 domain of phosphofurin acidic cluster sorting protein
Pacs-1aa 473–885UCSCPACS-1 cytosolic sorting protein

Gene Aliases

HGNC Name

phosphofurin acidic cluster sorting protein 2

HGNC Previous Symbol

PACS1L

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001100913.3
p.E296K
c.886G>A
Surrounding Variants
1 paper
NM_001100913.3
p.P298H
c.893C>A
3 papers
NM_001100913.3
p.D304N
c.910G>A
1 paper
NM_001100913.3
p.D287_L289del3
c.859_866del9
1 paper
NM_001100913.3
p.A276V
c.827C>T
1 paper
NM_001100913.3
p.R320Q
c.959G>A
1 paper
NM_001100913.3
p.Q332K
c.994C>A
1 paper
NM_001100913.3
p.S337C
c.1009A>T
1 paper
NM_001100913.3
p.E346fs
c.1036_1037fs
1 paper
NM_001100913.3
p.P347insFs
c.1039dupC
1 paper
NM_001100913.3
p.P350S
c.1048C>T
1 paper
NM_001100913.3
p.T372P
c.1114A>C
2 papers
NM_001100913.3
p.T372M
c.1115C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."