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.V253I

c.757G>A

Surrounding Variants

1 paper

NM_001184785.2

p.A256_D257insFs

c.768_769insAG

1 paper

NM_001184785.2

p.R249fs

c.745_746fs

1 paper

NM_001184785.2

p.S248T

c.743G>C

1 paper

NM_001184785.2

p.D246N

c.736G>A

2 papers

NM_001184785.2

p.E240K

c.718G>A

1 paper

NM_001184785.2

p.V272I

c.814G>A

1 paper

NM_001184785.2

p.V272A

c.815T>C

1 paper

NM_001184785.2

p.V275I

c.823G>A

1 paper

NM_001184785.2

p.P278S

c.832C>T

1 paper

NM_001184785.2

p.P278T

c.832C>A

1 paper

NM_001184785.2

p.G282E

c.845G>A

1 paper

NM_001184785.2

p.H287H

c.861C>T