Varaico: Literature-Extracted Genetic Variants

Gene:PACS2
Variant:p.R106S

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.R106S
c.318G>T
Surrounding Variants
1 paper
NM_001100913.3
p.R106S
c.318G>C
1 paper
NM_001100913.3
p.R106G
c.316A>G
1 paper
NM_001100913.3
p.R106fs
c.316_317fs
1 paper
NM_001100913.3
p.R118delFs
c.353delG
1 paper
NM_001100913.3
p.R118fs
c.352_353fs
1 paper
NM_001100913.3
p.T131M
c.392C>T
2 papers
NM_001100913.3
p.A133delFs
c.397delG
1 paper
NM_001100913.3
p.M139L
c.415A>C
1 paper
NM_001100913.3
p.M139L
c.415A>T
1 paper
NM_001100913.3
p.F96_S97del1
c.287_289delTCT
1 paper
NM_001100913.3
p.Q87H
c.261A>C
1 paper
NM_001100913.3
p.Q87H
c.261A>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."