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.I353T

c.1058T>C

Surrounding Variants

3 papers

NM_001184785.2

p.H356insFs

c.1068dupT

1 paper

NM_001184785.2

p.R349H

c.1046G>A

1 paper

NM_001184785.2

p.R349C

c.1045C>T

1 paper

NM_001184785.2

p.E364K

c.1090G>A

1 paper

NM_001184785.2

p.Q368K

c.1102C>A

1 paper

NM_001184790.2

p.Y333H

c.997T>C

1 paper

NM_001184785.2

p.S379*

c.1136C>G

1 paper

NM_001184785.2

p.S379*

c.1136C>A

1 paper

NM_001184785.2

p.E373_S380del8

c.1117_1139del24

1 paper

NM_001184785.2

p.D390insFs

c.1168_1169insC

1 paper

NM_001184785.2

p.S393G

c.1177A>G

1 paper

NM_001184785.2

p.S396N

c.1187G>A