Varaico: Literature-Extracted Genetic Variants

Gene:PARD3B
Variant:p.R227Splc

PARD3B

126 papers

Pfam Domains

Par3_HAL_N_termaa 1–83UCSCN-terminal of Par3 and HAL proteins
PDZaa 382–467UCSCPDZ domain
PDZaa 498–589UCSCPDZ domain

Gene Aliases

HGNC Name

par-3 family cell polarity regulator beta

HGNC Previous Symbol

ALS2CR19

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001302769.2
p.R227Splc
c.680+4A>T
Surrounding Variants
1 paper
NM_001302769.2
p.G208V
c.623G>T
1 paper
NM_001302769.2
p.M200K
c.599T>A
1 paper
NM_001302769.2
p.M200fs
c.598_599fs
1 paper
NM_001302769.2
p.D199fs
c.595_596fs
2 papers
NM_001302769.2
p.D199_M200delFs
c.597_598delTA
1 paper
NM_001302769.2
p.S242delins
c.725delinsG
2 papers
NM_001302769.2
p.R244Q
c.731G>A
1 paper
NM_001302769.2
p.E245K
c.733G>A
1 paper
NM_001302769.2
p.I257I
c.771C>T
1 paper
NM_001302769.2
p.S198Splc
c.593+2034C>T
1 paper
NM_001302769.2
p.Q271Q
c.813A>G
1 paper
NM_001302769.2
p.F274L
c.820T>C
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