Varaico: Literature-Extracted Genetic Variants

Gene:PPP4R1
Variant:p.R50delFs

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.R50delFs
c.148delT
Surrounding Variants
1 paper
NM_001042388.3
p.L51W
c.152T>G
1 paper
NM_001042388.3
p.L48P
c.143T>C
1 paper
NM_001042388.3
p.L45F
c.135G>T
1 paper
NM_001042388.3
p.L45F
c.135G>C
1 paper
NM_001042388.3
p.E43K
c.127G>A
2 papers
NM_001042388.3
p.D21E
c.63T>G
1 paper
NM_001042388.3
p.R75K
c.224G>A
1 paper
NM_001042388.3
p.A86T
c.256G>A
1 paper
NM_001042388.3
p.E89G
c.266A>G
1 paper
NM_001042388.3
p.V102delFs
c.305_306delCA
1 paper
NM_001042388.3
p.S123fs
c.367_368fs
1 paper
NM_001042388.3
p.T150R
c.449C>G
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