Varaico: Literature-Extracted Genetic Variants

Gene:PHACTR2
Variant:p.G198G

PHACTR2

53 papers

Pfam Domains

RPELaa 61–84UCSCRPEL repeat
RPELaa 504–527UCSCRPEL repeat
RPELaa 516–539UCSCRPEL repeat
RPELaa 516–539UCSCRPEL repeat

Gene Aliases

HGNC Name

phosphatase and actin regulator 2

HGNC Previous Symbol

C6orf56

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001100164.2
p.G198G
c.594T>A
Surrounding Variants
1 paper
NM_001100164.2
p.N207fs
c.619_620fs
1 paper
NM_001100164.2
p.A210T
c.628G>A
1 paper
NM_001100164.2
p.G212S
c.634G>A
2 papers
NM_001100164.2
p.P176S
c.526C>T
1 paper
NM_001100164.2
p.K173E
c.517A>G
1 paper
NM_001100164.2
p.P171H
c.512C>A
1 paper
NM_001100164.2
p.T160K
c.479C>A
1 paper
NM_001100164.2
p.E155K
c.463G>A
1 paper
NM_001100164.2
p.E152Splc
c.455-1G>C
1 paper
NM_001100164.2
p.T299T
c.897A>C
1 paper
NM_001100164.2
p.P339R
c.1016C>G
1 paper
NM_001100164.2
p.V340_P349Fs
c.1018_1046delinsGGTTCAAGCAATTCTCFs
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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."