Varaico: Literature-Extracted Genetic Variants

Gene:PPP4R1
Variant:p.H542R

PPP4R1

48 papers

RefSeq Summary

This gene encodes one of several alternate regulatory subunits of serine/threonine protein phosphatase 4 (PP4). The protein features multiple HEAT repeats. This protein forms a complex with PP4RC. Thi...

Pfam Domains

HEATaa 253–280UCSCHEAT repeat
WRNPLPNIDaa 451–519UCSCPutative WW-binding domain and destruction box

Gene Aliases

HGNC Name

protein phosphatase 4 regulatory subunit 1

HGNC Alias Symbol

PP4R1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001042388.3
p.H542R
c.1625A>G
Surrounding Variants
1 paper
NM_001042388.3
p.E544D
c.1632G>T
1 paper
NM_001042388.3
p.E544D
c.1632G>C
1 paper
NM_001042388.3
p.D579G
c.1736A>G
1 paper
NM_001042388.3
p.R633C
c.1897C>T
1 paper
NM_001042388.3
p.E506*
c.1516G>T
1 paper
NM_001042388.3
p.I470V
c.1408A>G
1 paper
NM_001042388.3
p.L463R
c.1388T>G
1 paper
NM_001042388.3
p.R460S
c.1380G>T
1 paper
NM_001042388.3
p.R460S
c.1380G>C
1 paper
NM_001042388.3
p.Q450P
c.1349A>C
1 paper
NM_001042388.3
p.P427fs
c.1279_1280fs
1 paper
NM_001042388.3
p.D403H
c.1207G>C
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