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

3 papers

NM_001184785.2

p.N111K

c.333C>A

Surrounding Variants

1 paper

NM_001184785.2

p.E102_N111del0

c.304_333del30

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.A115V

c.344C>T

1 paper

NM_001184785.2

p.S106R

c.318T>G

1 paper

NM_001184785.2

p.S106R

c.318T>A

1 paper

NM_001184785.2

p.S100_G105del6

c.298_314del18

1 paper

NM_001184785.2

p.S106N

c.317G>A

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.S106R

c.316A>C

1 paper

NM_001184785.2

p.S100_F104del5

c.298_311del15