Varaico: Literature-Extracted Genetic Variants

PARD3

10p11.22-p11.21 (UCSC)OMIM PanelApp GTEx

296 papers

RefSeq Summary

This gene encodes a member of the PARD protein family. PARD family members interact with other PARD family members and other proteins; they affect asymmetrical cell division and direct polarized cell ...

Pfam Domains

Par3_HAL_N_termaa 1–83UCSCN-terminal of Par3 and HAL proteins

PDZaa 461–545UCSCPDZ domain

PDZaa 590–679UCSCPDZ domain

Gene Aliases

HGNC Name

par-3 family cell polarity regulator

HGNC Alias Symbols

PAR3; PARD3A; Bazooka; PPP1R118

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001184785.2

p.R9delFs

c.27delC

Surrounding Variants

1 paper

NM_001184785.2

p.G8A

c.23G>C

1 paper

NM_001184785.2

p.V12L

c.34G>T

1 paper

NM_001184785.2

p.G8fs

c.22_23fs

1 paper

NM_001184785.2

p.T4_F7delFs

c.10_19del10

2 papers

NM_001184785.2

p.V13A

c.38T>C

1 paper

NM_001184785.2

p.V13D

c.38T>A

1 paper

NM_001184785.2

p.V5insFs

c.13_14insT

3 papers

NM_001184785.2

p.V5_C6insA

c.13_17ins3

1 paper

NM_001184785.2

p.V3delFs

c.8delA

2 papers

NM_001184785.2

p.K2insFs

c.5_6insA

1 paper

NM_001184785.2

p.G17G

c.51G>A

1 paper

NM_001184785.2

p.K2insFs

c.4_5insT