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.K454insFs

c.1361_1362insG

Surrounding Variants

1 paper

NM_001184785.2

p.I456delFs

c.1366delT

1 paper

NM_001184785.2

p.G457S

c.1369G>A

1 paper

NM_001184785.2

p.G450fs

c.1348_1349fs

1 paper

NM_001184785.2

p.S449fs

c.1345_1346fs

1 paper

NM_001184785.2

p.L464insFs

c.1391dupT

1 paper

NM_001184785.2

p.R420G

c.1258A>G

1 paper

NM_001184790.2

p.T357M

c.1070C>T

1 paper

NM_001184785.2

p.S396N

c.1187G>A

1 paper

NM_001184785.2

p.S393G

c.1177A>G

1 paper

NM_001184785.2

p.D390insFs

c.1168_1169insC

1 paper

NM_001184785.2

p.E373_S380del8

c.1117_1139del24

1 paper

NM_001184785.2

p.S379*

c.1136C>G