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

2 papers

NM_001184785.2

p.P118H

c.353C>A

Surrounding Variants

1 paper

NM_001184785.2

p.Q117*

c.349C>T

1 paper

NM_001184785.2

p.Q117K

c.349C>A

1 paper

NM_001184785.2

p.A121S

c.361G>T

1 paper

NM_001184785.2

p.A121T

c.361G>A

1 paper

NM_001184785.2

p.A115V

c.344C>T

1 paper

NM_001184785.2

p.E102_N111del0

c.304_333del30

3 papers

NM_001184785.2

p.N111K

c.333C>A

1 paper

NM_001184785.2

p.E126K

c.376G>A

1 paper

NM_001184785.2

p.V127I

c.379G>A

1 paper

NM_001184785.2

p.G109G

c.327C>A

1 paper

NM_001184785.2

p.G109S

c.325G>A

1 paper

NM_001184785.2

p.I125_V127delFs

c.373_380del8