Varaico: Literature-Extracted Genetic Variants

Gene:PHACTR4
Variant:p.A537P

PHACTR4

63 papers

RefSeq Summary

This gene encodes a member of the phosphatase and actin regulator (PHACTR) family. Other PHACTR family members have been shown to inhibit protein phosphatase 1 (PP1) activity, and the homolog of this ...

Pfam Domains

RPELaa 64–87UCSCRPEL repeat
RPELaa 584–607UCSCRPEL repeat
RPELaa 622–645UCSCRPEL repeat

Gene Aliases

HGNC Name

phosphatase and actin regulator 4

HGNC Alias Symbols

FLJ13171; PPP1R124

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
6 papers
NM_001048183.3
p.A537P
c.1609G>C
Surrounding Variants
1 paper
NM_001048183.3
p.A539T
c.1615G>A
1 paper
NM_001048183.3
p.V542V
c.1626G>T
1 paper
NM_001048183.3
p.L552F
c.1656G>T
1 paper
NM_001048183.3
p.H554R
c.1661A>G
1 paper
NM_001048183.3
p.R578G
c.1732C>G
1 paper
NM_001048183.3
p.R578W
c.1732C>T
1 paper
NM_001048183.3
p.I586_R587insFs
c.1758_1759insT
1 paper
NM_001048183.3
p.D515N
c.1543G>A
1 paper
NM_001048183.3
p.R507W
c.1519C>T
1 paper
NM_001048183.3
p.D477N
c.1429G>A
1 paper
NM_001048183.3
p.P430S
c.1288C>T
1 paper
NM_001048183.3
p.L425I
c.1273C>A
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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."