Varaico: Literature-Extracted Genetic Variants

Gene:PACS2
Variant:p.L517F

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.L517F
c.1549C>T
Surrounding Variants
1 paper
NM_001100913.3
p.T522M
c.1565C>T
1 paper
NM_001100913.3
p.P525delFs
c.1574delC
1 paper
NM_001100913.3
p.Q540E
c.1618C>G
1 paper
NM_001100913.3
p.Q490R
c.1469A>G
1 paper
NM_001100913.3
p.P550L
c.1649C>T
1 paper
NM_001100913.3
p.T551I
c.1652C>T
1 paper
NM_001100913.3
p.L568M
c.1702C>A
1 paper
NM_001100913.3
p.D581N
c.1741G>A
1 paper
NM_001100913.3
p.R463Q
c.1388G>A
1 paper
NM_001100913.3
p.A462T
c.1384G>A
1 paper
NM_001100913.3
p.S437A
c.1309T>G
1 paper
NM_001100913.3
p.R434W
c.1300C>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."