Varaico: Literature-Extracted Genetic Variants

Gene:PHACTR2
Variant:p.M113V

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
3 papers
NM_001100164.2
p.M113V
c.337A>G
Surrounding Variants
1 paper
NM_001100164.2
p.P115L
c.344C>T
1 paper
NM_001100164.2
p.F106F
c.318T>C
1 paper
NM_001100164.2
p.K128N
c.384G>C
1 paper
NM_001100164.2
p.K128N
c.384G>T
1 paper
NM_001100164.2
p.E145fs
c.433_434fs
1 paper
NM_001100164.2
p.E145insFs
c.434_435insT
1 paper
NM_001100164.2
p.Q98E
c.292C>G
1 paper
NM_001100164.2
p.E152Splc
c.455-1G>C
1 paper
NM_001100164.2
p.E155K
c.463G>A
1 paper
NM_001100164.2
p.T160K
c.479C>A
1 paper
NM_001100164.2
p.P171H
c.512C>A
1 paper
NM_001100164.2
p.K173E
c.517A>G
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