Varaico: Literature-Extracted Genetic Variants

Gene:PHACTR4
Variant:p.D515N

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
1 paper
NM_001048183.3
p.D515N
c.1543G>A
Surrounding Variants
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
1 paper
NM_001048183.3
p.P395L
c.1184C>T
10 papers
NM_001048183.3
p.Q390K
c.1168C>A
1 paper
NM_001048183.3
p.Q387K
c.1159C>A
2 papers
NM_001048183.3
p.P385L
c.1154C>T
5 papers
NM_001048183.3
p.L380I
c.1138C>A
1 paper
NM_001048183.3
p.Q367*
c.1099C>T
1 paper
NM_001048183.3
p.P362H
c.1085C>A
1 paper
NM_001048183.3
p.P356T
c.1066C>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."