Varaico: Literature-Extracted Genetic Variants

Gene:PARD3B
Variant:p.D598_P599del2

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.D598_P599del2
c.1792_1796del6
Surrounding Variants
1 paper
NM_001302769.2
p.E597_D598Splc
c.1792-1G>A
1 paper
NM_001302769.2
p.Q614E
c.1840C>G
1 paper
NM_001302769.2
p.R622*
c.1864C>T
2 papers
NM_001302769.2
p.N623D
c.1867A>G
1 paper
NM_001302769.2
p.H629insFs
c.1887dupT
1 paper
NM_001302769.2
p.P630fs
c.1888_1889fs
1 paper
NM_001302769.2
p.G632delFs
c.1895_1896delGC
1 paper
NM_001302769.2
p.G642S
c.1924G>A
1 paper
NM_001302769.2
p.V587_R591delFs
c.1761_1773del13
1 paper
NM_001302769.2
p.Q585R
c.1754A>G
1 paper
NM_001302769.2
p.M576I
c.1728G>A
1 paper
NM_001302769.2
p.M576I
c.1728G>C
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