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

6 papers

NM_001184785.2

p.R496W

c.1486C>T

Surrounding Variants

2 papers

NM_001184785.2

p.R496P

c.1487G>C

1 paper

NM_001184785.2

p.Q501*

c.1501C>T

1 paper

NM_001184785.2

p.A498_K506del9

c.1492_1517del27

2 papers

NM_001184785.2

p.F473C

c.1418T>G

2 papers

NM_001184785.2

p.G470D

c.1409G>A

1 paper

NM_001184785.2

p.D518N

c.1552G>A

1 paper

NM_001184785.2

p.E525Q

c.1573G>C

1 paper

NM_001184785.2

p.S529L

c.1586C>T

1 paper

NM_001184785.2

p.L530L

c.1590G>T

1 paper

NM_001184785.2

p.T534S

c.1600A>T

1 paper

NM_001184785.2

p.T534S

c.1601C>G

1 paper

NM_001184785.2

p.R546C

c.1636C>T