Varaico: Literature-Extracted Genetic Variants

Gene:PPP4R3B
Variant:p.F593L

PPP4R3B

61 papers

Pfam Domains

EVH1_PP4R3aa 5–104UCSCEVH1-like domain in PP4R3 protein
PP4R3aa 144–681UCSCPhosphatase 4 regulatory subunit 3

Gene Aliases

HGNC Name

protein phosphatase 4 regulatory subunit 3B

HGNC Previous Symbol

SMEK2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001122964.3
p.F593L
c.1777T>C
Surrounding Variants
1 paper
NM_001122964.3
p.F593L
c.1779T>G
1 paper
NM_001122964.3
p.F593L
c.1779T>A
1 paper
NM_001122964.3
p.D624G
c.1871A>G
1 paper
NM_001122964.3
p.N633T
c.1898A>C
1 paper
NM_001122964.3
p.Y668delFs
c.2004delA
1 paper
NM_001122964.3
p.Q686P
c.2057A>C
1 paper
NM_001122964.3
p.S692Splc
c.2076-12T>C
1 paper
NM_001122964.3
p.S692I
c.2075G>T
1 paper
NM_001122964.3
p.R703H
c.2108G>A
1 paper
NM_001122964.3
p.E723K
c.2167G>A
2 papers
NM_001122964.3
p.G725*
c.2173G>T
1 paper
NM_001122964.3
p.K747R
c.2240A>G
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