Varaico: Literature-Extracted Genetic Variants

Gene:PHACTR4
Variant:p.W664C

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.W664C
c.1992G>T
Surrounding Variants
1 paper
NM_001048183.3
p.W664C
c.1992G>C
1 paper
NM_001048183.3
p.P669S
c.2005C>T
1 paper
NM_001048183.3
p.R659*
c.1975C>T
1 paper
NM_001048183.3
p.K626_L627Splc
c.1879-11G>A
2 papers
NM_001048183.3
p.L623P
c.1868T>C
1 paper
NM_001048183.3
p.R622P
c.1865G>C
1 paper
NM_001048183.3
p.E618K
c.1852G>A
1 paper
NM_001048183.3
p.T594_P595insFs
c.1782_1783insT
1 paper
NM_001048183.3
p.R588G
c.1762C>G
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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."