Varaico: Literature-Extracted Genetic Variants

Gene:PPP4R4
Variant:p.F531L

PPP4R4

57 papers

RefSeq Summary

The protein encoded by this gene is a HEAT-like repeat-containing protein. The HEAT repeat is a tandemly repeated, 37-47 amino acid long module occurring in a number of cytoplasmic proteins. Arrays of...

Gene Aliases

HGNC Name

protein phosphatase 4 regulatory subunit 4

HGNC Previous Symbol

KIAA1622

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_058237.2
p.F531L
c.1591T>C
Surrounding Variants
1 paper
NM_058237.2
p.F531L
c.1593C>A
1 paper
NM_058237.2
p.F531L
c.1593C>G
2 papers
NM_058237.2
p.D520N
c.1558G>A
1 paper
NM_058237.2
p.V542F
c.1624G>T
1 paper
NM_058237.2
p.Q543*
c.1627C>T
1 paper
NM_058237.2
p.R555H
c.1664G>A
1 paper
NM_058237.2
p.E422*
c.1264G>T
1 paper
NM_058237.2
p.I416T
c.1247T>C
1 paper
NM_058237.2
p.V412I
c.1234G>A
1 paper
NM_058237.2
p.V386F
c.1156G>T
1 paper
NM_058237.2
p.P382_A383Splc
c.1146+25C>A
1 paper
NM_058237.2
p.P382P
c.1146G>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."