Varaico: Literature-Extracted Genetic Variants

Gene:PHACTR2

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
1–12 of 56 variants
3 papers
NM_001100164.2
p.M113V
c.337A>G
2 papers
NM_001100164.2
p.P176S
c.526C>T
2 papers
NM_001100164.2
p.R511H
c.1532G>A
1 paper
NM_001100164.2
p.M1insFs
c.2dupT
1 paper
NM_001100164.2
p.G2S
c.4G>A
1 paper
NM_001100164.2
p.T4insFs
c.11dupC
1 paper
NM_001100164.2
p.S15R
c.43A>C
1 paper
NM_001100164.2
p.S15R
c.45C>A
1 paper
NM_001100164.2
p.S15R
c.45C>G
1 paper
NM_001100164.2
p.D28Y
c.82G>T
1 paper
NM_001100164.2
p.K42N
c.126G>C
1 paper
NM_001100164.2
p.K42N
c.126G>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."