Varaico: Literature-Extracted Genetic Variants

Gene:PACS2
Variant:p.A192P

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.A192P
c.574G>C
Surrounding Variants
1 paper
NM_001100913.3
p.T195M
c.584C>T
2 papers
NM_001100913.3
p.T185A
c.553A>G
1 paper
NM_001100913.3
p.S175F
c.524C>T
1 paper
NM_001100913.3
p.A167V
c.500C>T
1 paper
NM_001100913.3
p.P163P
c.489C>T
1 paper
NM_001100913.3
p.S199A
c.595T>G
1 paper
NM_001100913.3
p.E200K
c.598G>A
1 paper
NM_001100913.3
p.S208A
c.622T>G
52 papers
NM_001100913.3
p.E209K
c.625G>A
1 paper
NM_001100913.3
p.E209Q
c.625G>C
16 papers
NM_001100913.3
p.E211K
c.631G>A
1 paper
NM_001100913.3
p.A216T
c.646G>A
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