Varaico: Literature-Extracted Genetic Variants

Gene:PPP4R1
Variant:p.A278V

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
3 papers
NM_001042388.3
p.A278V
c.833C>T
Surrounding Variants
1 paper
NM_001042388.3
p.R269Q
c.806G>A
1 paper
NM_001042388.3
p.V265I
c.793G>A
1 paper
NM_001042388.3
p.D302H
c.904G>C
1 paper
NM_001042388.3
p.R305_W306del2
c.913_917del6
1 paper
NM_001042388.3
p.C241F
c.722G>T
1 paper
NM_001042388.3
p.C224F
c.671G>T
1 paper
NM_001042388.3
p.L212V
c.634C>G
1 paper
NM_001042388.3
p.A153S
c.457G>T
1 paper
NM_001042388.3
p.T150R
c.449C>G
1 paper
NM_001042388.3
p.S123fs
c.367_368fs
1 paper
NM_001042388.3
p.V102delFs
c.305_306delCA
1 paper
NM_001042388.3
p.V344A
c.1031T>C
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